Members will hear testimony examining the efficiency and effectiveness of prenatal genetic testing technology and its implications for individuals with disabilities.
Witness Panel 1
Mrs Cheryl Sensenbrenner
Mr. Chairman, Ranking Member Breaux, and Members of the Senate Commerce, Science and Transportation Subcommittee on Science, Technology and Space: Thank you for inviting me to testify on the implications of the new prenatal genetic testing technologies for people with disabilities and their families. I am honored to have this opportunity. My name is Cheryl Sensenbrenner and I am a Board Member of the American Association of People with Disabilities (AAPD), a national non-profit, non-partisan membership organization promoting political and economic empowerment for the more than 56 million disabled children and adults in the U.S. I am also here as a woman with a disability, and, probably most importantly, as the proud sister of a woman with Down syndrome, Tara Rae Warren. I am delighted that my sister, Tara, is able to be with us today for this important hearing. Whereas my friend and colleague Andy Imparato will approach today’s topic from a public policy standpoint, my comments today will be more personal. Although we are certainly making progress in public attitudes, there is still a strong tendency in American society to underestimate the positive contributions that people with disabilities are capable of making if given a chance. I have seen people continually underestimate what my sister is capable of doing, and I have seen what can happen when people believe in her and give her an opportunity to shine. Because Tara’s mental disability is physically recognized, she is almost daily subjected to snide remarks, odd looks and put downs. Tara has faced many obstacles with no fear and total perseverance. Through her early education and with her family’s support, Tara has been able to support herself with various jobs. This financial independence has been a great sense of pride for Tara. She has been able to pay for her own car she drives and her car insurance. In the past few elections, Tara, has been a non-partisan poll watcher in Wisconsin. Tara has completed her high school education and taken a couple of college courses. She has given speeches to students of special education on the challenges of her disability. Tara would be most happy to answer any questions you might have -- once she stops blushing. Although I don’t often encounter the same degree of paternalism that my sister has faced, I can tell you from my personal experience living with a physical disability for all of my adult life that people frequently underestimate or overlook my capacities as well. Many people assume that my injuries occurred after my marriage to my husband, Representative F. James Sensenbrenner, Jr. My husband, Jim, “got me” in a wheelchair, or at best on Canadian crutches. This has been a lifelong journey since I was twenty-two years old. I can remember when my father was the Attorney General of Wisconsin going to a bank and sitting in the lobby waiting for my father to conduct some personal business. I remember a bank executive looking at me and stating “people like that belong on the park benches out front and not in our lobby.” I found it amazing that someone with a higher education would still think with such a closed mind. I can also remember back when the physically disabled were determined not qualified to serve on a jury. I am curious to know whether they truly believed that I would be mentally unfit due to my physical disability or if it was simply an issue of handicap accessibility. Being a disabled person can be difficult, but it is not impossible to deal with. On the positive side with the support of my dear family and friends, only certain sports and pretty shoes with heels remain unapproachable to me. When I had my children, I didn’t have to worry about prenatal genetic testing because the science hadn’t evolved to a point where that kind of testing was widespread. I know that in recent years the science and practice of prenatal genetic testing has grown so that now it is very common for pregnant mothers to be offered screening tests to determine the likelihood that their baby will be born with conditions like Down syndrome and Spina Bifida. I am concerned that expecting parents are being asked to consent to tests without really understanding the pros and cons of participating in this kind of testing. I am also even more concerned that expecting parents are being given the positive results of prenatal diagnostic tests for conditions like Down syndrome without getting good information about what it is like to raise a child with Down syndrome, or what supports and programs exist in the community for families with disabled children. When you couple the uninformed fears and concerns many parents are likely to have when they receive this kind of a prenatal diagnosis with the pressures they may perceive from their treating professionals, family and friends to terminate the pregnancy, you have a recipe for uninformed decision making that can dramatically reduce the number of babies born with Down syndrome and other congenital disabilities. As someone who can testify to the great joy and love that my sister has brought to me and my family, I am saddened and disheartened to think that the new genetic technologies would have this kind of impact. As a parent, I am deeply troubled by any efforts to use prenatal genetic testing to identify genetically “normal” or “healthy” children and terminate pregnancies that fail to pass this test. Our responsibility as parents is to love and nurture our children, whatever challenges they may face. As a society, do we really want to live in a world where children must pass genetic tests in order to be born? I believe we have a moral and ethical responsibility to maximize the likelihood that children with disabilities will be welcomed into the world like other children, and that their families will be supported in their efforts to help their children thrive. Science and medicine should be used to improve the quality of people’s lives, not to encourage parents to try to engineer an advantage in the genetic lottery for their children. If our experience with the prenatal screening and tests currently being used for Down syndrome and Spina Bifida is a harbinger of what is to come, I am very worried about how the new genetic technologies will be used moving forward. I believe that God created a beautifully diverse human population for a reason, and we should be humble and proceed with caution as we develop tools that can be manipulated to threaten that diversity. Thank you for the opportunity to testify and for calling attention to this important topic.
Witness Panel 2
Mr. Andrew Kimbrell
History does not repeat itself, but it does rhyme—Mark Twain Preimplantation Genetic Diagnosis (PGD) is only one of many emerging genetic and reproductive technologies in need of broad public discussion and regulation, but we view PGD as a gateway technology. PGD, if permitted to continue unregulated, could pave the way to new eugenics, where children are literally selected and eventually designed according to a parent’s desires and fears. Recent rapid developments in PGD indicate that we are stumbling down a slippery slope toward this future rendering a policy response an urgent matter. Finally unfettered developments of PGD applications in the US attest to the general failure of the US policy regarding genetic and reproductive technologies. This policy failure must be corrected if we are to prevent a new eugenics in the US and abroad. Germany, Austria, Ireland, Switzerland, and Southwest Australia have banned PGD outright. Other nations, including the United Kingdom, France, the Netherlands, Belgium, Italy, and Greece have limited the use of PGD. Even in the US, until recently, PGD was used exclusively for medical purposes. Today, two thirds of the 50 or so fertility clinics in the world offering PGD are in the US. Some clinics are blatantly performing PGD for selection. Many other clinics have used PGD to avoid late-onset diseases like Alzheimer’s. A growing number of couples are using PGD to select an embryo that would grow into a child intended to be a tissue match for its sibling. None of these applications were subject to formal regulatory review or public deliberation prior to their use. In the case of sex selection, the practice specifically violates the voluntary guidelines of the American Society of Reproductive Medicine. The US lack of regulation has resulted in advocates of expanded PGD in other countries to push for more permissiveness abroad. Some of the advocates, including Robert Edwards, who 25 years ago performed the first successful IVF procedure in humans, explicitly promote the new eugenic approach. Edwards has predicted that “Soon it will be a sin for parents to have a child which carries the heavy burden of genetic disease. We are entering a world where we have to consider the quality of our children.” In the United Kingdom groups have already organized protests against this new eugenics. People Against Eugenics organized a September 30, 2004 protest at a British pro-eugenics conference at the Royal Society in London. The press release denounced the eugenics conference organizer, the pioneer of IVF, Robert Edwards as the link between the old-fashioned state sanctioned eugenics and the new free-market version. It notes that Edwards, who 25 years ago, performed the first successful IVF procedure in humans is the former President and a leading member of the British eugenics society. Today, twenty-five years after the birth of Louis Brown from Edward’s IVF technique, some one million children have been born from the process of IVF. The paralleled development of genetic testing has resulted into the merger of genetic testing and assisted reproduction into preimplantation genetic diagnosis (PGD). Parents can now choose which of their embryos to implant in the mother’s womb based on the outcome of more than 1000 genetic tests that potentially could be performed on the embryos. At birth, Chloe 0’Brien seemed no different than any other healthy baby, but Chloe was the pioneer product of the new technology of PGD. Born in March 1992, she was the first baby to be genetically screened as an embryo for a genetic defect, cystic fibrosis (CF), before being implanted into her mother’s womb. In the 12 years since Chloe’s birth, up to 10,000 children have been born after a preimplantation genetic screening. Chromosome abnormalities such Down syndrome and single gene defects including CF, Tay Sachs, muscular dystrophy and sickle cell anemia have been screened with PGD. These tests screen for some diseases like Tay Sachs, that result in short brutal lives for the children with the diseases, but also for diseases like Downs where children can live into their 50s or later. Genetic testing for these diseases is not new in that many of them are already tested for through amniocentesis. PGD accelerates trends begun through prenatal testing While in the US there are no national data on how many pregnancies are terminated as the result of prenatal testing, some regional results may highlight what decisions are being made through pre-natal diagnosis. Interestingly, some data suggest that more women may be carrying Down syndrome babies to term. A study at Harvard-Pilgrim Health Care found that while the incidence of pregnancies with Down syndrome in the HMO had increased from 2 per 1000 in 1992 to 6 per 1000 in 1996, there was a significant trend toward carrying fetuses with Down syndrome to term. In 1992, almost 100 percent of fetuses prenatally diagnosed with Down syndrome at the HMO were terminated; in 1994-95, this figure was 65%. Rates of pregnancy termination for Down syndrome vary considerably between hospitals and between ethnic and religious groups. A 2004 study by the CDC of Down syndrome in Atlanta women found a lower portion of elective termination among black women as compared to white women. A study of pregnancy terminations for Downs in Boston in 1996 found that rates of termination varied widely between the north and south shores of Boston even though both groups of women received genetic counseling from the same people. Apparently women with deeply held beliefs about abortion decided to terminate the Down syndrome fetus at a much lower rate than women who did not have the same beliefs. Improvements in societal attitudes and support services for children with Downs also seemed to change the numbers of women choosing not to terminate their pregnancies. Women who are better prepared for their child’s condition may also be more willing to carry a pregnancy to term. Some researchers report, however, that most women carrying fetuses whose disorders are usually fatal at in early infancy choose to terminate those pregnancies. Many parents of children with Down syndrome consider them to be special children. A United Methodist minister from New England and his wife have a child with Down syndrome that he considers a gift from God. . “We fluctuated between accepting and rejecting the Downs diagnosis… That day we also got word that the chromosomal test confirmed the Downs condition; by now the news was expected and absorbed…almost exactly a week after birth, we had our exit interview with our nurse in charge, wrapped baby up and buckled her into our inspected car seat, and gingerly drove back to our apartment and began the awe-some process of becoming full time parents. She is lovely. (She) is made in God’s image. She is a letter from God that says, “I love you.” As I began jotting down notes for today late at night, she was lying first on my shoulder, then on my lap, then on the bed between (her mother) and I. Her touch is wonderful. Her face testifies to God’s glory.” Unlike prenatal diagnosis, that might be used by a couple to prepare for child that has a genetic disease, preimplantation genetic diagnosis is likely to result in a decisions to exclude from implantation ANY embryo that has a suspected genetic disease or trait that might lead to disease in later generations. In this respect, preimplantation diagnosis, even more than prenatal diagnosis is a eugenics practice. By excluding individuals that might live with genetic diseases for many years, PGD is a form of negative eugenics. The designer baby wherein “positive” characteristics are selected for is not yet here, but it is a short step away. PGD promotes both genetic discrimination and more IVF procedures If we fail to pass legislation to prohibit all forms of genetic discrimination, parents may feel even more pressure not to have children with known genetic diseases. In these cases, they may choose to have IVF combined with PGD to avoid having a child with “avoidable” genetic diseases. If that happens, the brave new world of free market eugenics will have arrived. Some argue that PGD should be a standard part of IVF practice. PGD is now performed routinely at one of the world's leading IVF clinics, the Reproductive Genetics Institute in Chicago. "It should be done for every IVF cycle, in my view," says Yury Verlinsky, the institute's director. "It doubles or triples the implantation rate, while decreasing dramatically the miscarriage rate." The overall effect, says Verlinsky, is to more than double the average success rate per IVF cycle, so that couples have a greater chance of conceiving a child and to do so sooner. PGD is still an experimental procedure. We do not know what long term health damage is caused to the early embryo as a result of removing one of its cells for genetic analysis. Furthermore, it requires a woman to use IVF, burdensome and risky procedure in order to have a child. Hormonal treatments required for egg extraction have caused long-term health problems in women. Low implantation rates and the high costs of the procedure encourage fertility specialists to implant multiple embryos at the same time, resulting in high rates of multiple births. IVF infants moreover have twice the risk of major birth defects than those conceived naturally. Ironically, by encouraging more women to undergo IVF as a strategy to avoid birth defects, the fertilization industry may be producing more birth defects. Nonetheless, fertility clinics as promoting PGD for more than just the most awful birth defects. Mohammed Taranissi, who runs the Assisted Reproduction and Gynaecology Centre in London, says that the industry is considering promoting other kinds of PGD even more. It is possible to test embryos for the genes that will cause certain "late onset" diseases, such as a form of Alzheimer’s, which can occur in middle age and some cancers. Doctors could identify and select embryos that would have a healthy childhood and youth, but are destined to die prematurely. "Is this something that we should do? That to me is a very important issue," said Mr. Taranissi. If IVF becomes still more common and more health insurers beginning paying for IVF, the combination of IVF and PGD will likely mean the exclusion for the genetic pool of families having IVF any of the genes that we are able to test for. The absence of any real federal regulation in this area will make it likely that parents will have to make difficult decisions with little guidance. There are only about 1000 genetic counselors in the entire country, too few to effectively counsel an increased number of families seeking to use genetic testing. Moreover, only three states currently license genetic counselors and many health plans have dropped coverage for genetic counseling. Without independent counseling, the very people that have a financial interest in testing embryos will be advising couples on which embryos should be kept. The New Eugenics as a form of “Cold Evil” The fertilization industry has become like many of our other massive corporate and government bureaucracies wherein evil no longer requires evil people to purvey it. We are witnessing the “technification” of evil. Unfortunately, we have utterly failed to register the appropriate recognition and abhorrence of this new form of institutional evil brought about through our economic and technological systems. The tragic result of this failure is that this technological “cold” evil flourishes. If a totalitarian state were to propose eliminating all of its differently abled residents, we would rightly denounce that as the “hot” evil of genocide. If our society embarks on technological strategy of eliminating its future disabled members through a free-market technology should we be silent in the face of this “cold” evil of eugenics? Recommendations for Regulatory Guidelines for PGD: Limit genetic testing of embryos to those conditions that result in early and painful death of children, such as anencephaly, Tay Sachs, Lech Nyan’s Disease. Prohibit negative eugenics in the case of all other genetic conditions. Prohibit the use of PGD for selecting for non-disease characteristics such as height, weight, intelligence, personality traits, behavior or gender. Implement a complete ban on the genetic modification of human embryos, including the introduction of synthetic genes or chromosomes.
Mr. Andrew J. Imparato
Mr. Chairman, Ranking Member Breaux, and Members of the Senate Commerce, Science and Transportation Subcommittee on Science, Technology and Space: Thank you for the opportunity to provide testimony regarding the important topic, “Prenatal Genetic Testing Technology.” I am honored to have this opportunity. My name is Andrew J. Imparato and I am the President and Chief Executive Officer of the American Association of People with Disabilities (AAPD), a national non-profit, non-partisan membership organization promoting political and economic empowerment for the more than 56 million children and adults with disabilities in the U.S. With more than 100,000 individual members around the country, AAPD is the largest membership organization bringing together the diverse populations that make up the disability community. AAPD operates programs in the areas of leadership development, internships, mentoring and career exploration, civic participation, public policy advocacy, and member benefits. Founded on the fifth anniversary of the Americans with Disabilities Act (ADA), AAPD advocates for policies that are consistent with the goals of the ADA: equality of opportunity, independent living, economic self-sufficiency, and full participation in all aspects of society. My testimony today will address some of the disability rights issues that must be considered as the technology of prenatal genetic testing continues to develop. As person with a disability that likely has a genetic link (bipolar disorder) and a civil rights lawyer, I am here today because I am concerned about the increasing potential of the new genetic technologies to be used in a manner that discriminates against individuals with disabilities. I am also concerned about the rise of a new eugenics that threatens to undo some of the important advances in how our society views children and adults with disabilities. One of the most basic principles of the disability rights movement is that disability is a natural part of the human experience that in no way should limit a person’s right to make choices, pursue meaningful careers, live independently, and participate fully in all aspects of society. Disability need not be seen a tragedy to be avoided, but as part of human diversity that can be accommodated and viewed as a source of strength, pride and identity. Tragedies occur when our society artificially limits the ability of disabled people to participate fully in community life; when individuals are warehoused in nursing homes and other institutions because of a lack of funding for community-based supports; when children are isolated and fall victim to the low expectations of teachers who lack the preparation or imagination to meet their needs; or when qualified workers seek employment and encounter prejudice that thwarts their career goals. As we examine the implications of prenatal genetic testing technologies, it is important that we remember the history of eugenics in the U.S. and the very real negative impact that this history had on the lives of people with disabilities, especially people with mental disabilities. In 1927, in the case of Buck v. Bell, Justice Oliver Wendell Holmes wrote a decision for the U.S. Supreme Court upholding the practice of involuntary sterilization of people who were classified as “feeble-minded” (a broad category that included not just people with psychiatric and intellectual disabilities but also people with seizure disorders and other neurological conditions). Writing for the nation’s highest court, Justice Holmes opined: “It is better for all the world, if instead of waiting to execute degenerate offspring for crime, or to let them starve for their imbecility, society can prevent those who are manifestly unfit from continuing their kind.” Buck v. Bell, 274 U.S. 200 (1927). In this now infamous ruling, Justice Holmes was supporting a world view that was in vogue among many American intellectuals at the time, and a view that became widely held among the Nazis in Germany. Physically and mentally “defective” people were among the first targets of the Holocaust, as Hitler’s “T-4” program systematically exterminated disabled and chronically-ill Germans who were perceived as threatening the genetic purity of the Aryan race. One would hope that reactions to the Holocaust and the advent of the disability rights and independent living movements in the U.S. and around the world would have put an end to the eugenic efforts to eliminate people with disabilities. Certainly, the Holocaust should have sensitized the medical and ethical communities to the dangerous potential of eugenic ideologies. Unfortunately, if we examine the rhetoric of some influential modern scientists and ethicists, we can see the emergence of a new eugenics tied to the rapid advances in scientific understanding of the human genome. For example, Bob Edwards, the esteemed radiologist who created Britain’s first test-tube baby, remarked at an international fertility conference in 1999 that the increasing availability of prenatal screening for genetic disease gave parents a moral responsibility not to give birth to disabled children. “Soon,” he pronounced, “it will be a sin of parents to have a child that carries the heavy burden of genetic disease. We are entering a world where we have to consider the quality of our children.” Closer to home, Peter Singer, a bioethics professor at Princeton, has written that “it does not seem quite wise to increase any further draining of limited resources by increasing the number of children with impairments.” Singer has even gone so far as to defend the ethics of a parent’s choice to kill a disabled infant within a certain number of days after its birth. His Princeton colleague, molecular biologist Lee Silver, writes about a future in which the wealthiest in society will be able to pay for genetic modifications, resulting in a societal segregation between the “GenRich” and the “Naturals.” In this society, according to Silver, “The GenRich—who account for 10 percent of the American population—all carry synthetic genes. All aspects of the economy, the media, the entertainment industry, and the knowledge industry are controlled by members of the GenRich class…. Naturals work as low-paid service providers or as laborers…. [Eventually] the GenRich class and the Natural class will become entirely separate species with no ability to cross-breed, and with as much romantic interest in each other as a current human would have for a chimpanzee.” From Remaking Eden: Cloning and Beyond in a Brave New World (New York, Avon Books, 1997, pages 4-7). This kind of rhetoric, which should trouble anyone concerned about American ideals like equal opportunity and a just society, is particularly alarming for many of us in the disability rights movement. As Colorado disability activist and writer Laura Hershey has observed, The application of genetic knowledge to the repair of damaged genes, for the purposes of treating certain illnesses, may offer welcome benefits to some people with disabilities. But genetic research is likely to be put to other, more insidious, uses – such as denying health insurance, even jobs, to people whose genes predispose them to medical problems. Another threat is the implementation of eugenic policies to “weed out” certain types of people from the population. Thus, along with the much-heralded scientific advances offered by genetic research, disability activists nervously witness a resurgence of eugenic thinking. “Will Genetic Research Lead to Eugenic Policies?”, August 26, 1999, from Laura Hershey’s online column Crip Commentary. Because society continues to devalue the quality of life of people with disabilities, based on fears, myths and stereotypes that some people associate with particular disabling conditions, it is critical that people living with disabilities and their families play a large role in the ongoing public debates about how the new prenatal genetic testing technologies will be used. Equally important, the perspective of people with disabilities and their families should be incorporated into the education of physicians, genetics counselors, and other professionals who are interacting with expecting parents as they make choices about which tests to have and what to do in light of the results. To the greatest extent possible, expecting parents who receive positive test results should be given an opportunity to meet with and talk to individuals and families who have experience with the particular disability that has been indicated. There is no substitute for this kind of first-person account of the joys and challenges that a child with a disability can pose for a family. This kind of exposure can demystify what the diagnosis means and begin the process of building a support network that will be critical for the family to develop as it prepares for the birth. One way to facilitate this outcome would be to create incentives for people with gene-linked disabilities and their family members to go into genetics counseling as a profession. One of the dangers of the expansion of prenatal genetic testing technologies is that expecting parents will experience pressures to terminate their pregnancies from medical professionals and insurers. Doctors may want to avoid a complicated delivery and insurers may want to avoid expenses associated with the child’s disability. Our public policy must be crystal clear that no family will ever be penalized for choosing not to have prenatal diagnostic tests or for choosing to go forward with the pregnancy after a disability has been prenatally diagnosed. Similarly, we need to protect medical professionals from being penalized or held liable in the event their patients elect to avoid prenatal tests or choose to move forward with a pregnancy where a disability has been prenatally diagnosed. Finally, we need to work to build networks of support for families adjusting to the news that their baby is likely to have a disability, and to expand programs like Early Intervention, affordable quality healthcare, respite care, accessible housing, and other forms of family support so that families can choose to move forward with a pregnancy without having to incur severe financial and emotional hardships as they work to make sure their newborn is getting the best quality care possible. As President Bush remarked when he introduced his New Freedom Initiative for people with disabilities in February of 2001, Wherever a door is closed to anyone because of a disability, we must work to open it. Wherever any job or home, or means of transportation is unfairly denied because of a disability, we must work to change it. Wherever any barrier stands between you and the full rights and dignity of citizenship, we must work to remove it, in the name of simple decency and simple justice. Our challenge is to make sure that the growing technology of prenatal genetic testing does not erect new barriers to the full rights and dignity of citizenship, and that our values of simple decency and simple justice enable us to avoid the pitfalls of the new eugenics. Thank you again for calling attention to this important growing technology, and for your desire to get a disability perspective on this difficult topic.
Dr. Kathy Hudson
Mr. Chairman and members of the Subcommittee, thank you for inviting me to be with you today to discuss the science, ethics, and policy of prenatal genetic testing. My name is Kathy Hudson and I am the Director of the Genetics and Public Policy Center and Associate Professor in the Berman Bioethics Institute and in the Institute of Genetic Medicine at Johns Hopkins University. Established with a grant from The Pew Charitable Trusts, the mission of the Genetics and Public Policy Center is to provide independent and objective information and analysis on genetic technologies and genetic policies. We hope our work provides useful tools for decision makers in both the private and public sectors as they consider and respond to the challenges and opportunities that arise from scientific advances in human genetics. Genetic testing is undergoing tremendous changes. Scientists are identifying disease-causing mutations in humans at a remarkable pace and developing tests to detect them. There are over 1000 genetic tests available or in development, all of which could potentially be used in prenatal genetic testing. The growing availability and use of genetic testing in the reproductive context presents a host of complicated social, legal and ethical issues. I applaud this Committee for its foresight in taking up this issue and welcome the opportunity to share with you the results of the Center’s work and experience in this arena. The Genetics and Public Policy Center has spent the past two years investigating reproductive genetic testing, which includes prenatal genetic testing, the topic of today’s hearing, as well as carrier testing and preimplantation genetic diagnosis. We are about to issue two reports on the topic. The first, Reproductive Genetic Testing: Issues and Options for Policymakers, aims to help focus and facilitate the discussion about reproductive genetic testing by outlining key scientific and medical facts, considering ethical and social implications, and assessing both current and potential oversight for the development and use of reproductive genetic tests. It presents a range of policy options supported by expert analysis that consider the potential effects, good and bad, of distinctly different policy directions. Our second report, Reproductive Genetic Testing: What America Thinks, presents the results from our in-depth effort to understand what the public knows, thinks and feels about genetic technologies. We undertook this effort so that policy leaders and other decision makers would have more nuanced and sophisticated information about public’s attitudes towards these technologies than has previously been available to-date. This effort is the largest and most ambitious public opinion work to-date on this issue. We have surveyed over 6000 Americans, conducted focus groups, and interviewed hundreds of individuals who have had personal or professional experience with these technologies. Recognizing that one of the drawbacks to both qualitative and quantitative public opinion research is that individuals are asked to comment on complex scientific and ethical issues which they may have had little prior opportunity to consider, we conducted an extensive public engagement activity this summer to obtain more informed, reflective opinions from the general public. Over 500 citizens in six cities across the U.S. (Sacramento, CA; Seattle, WA; Kalamazoo, MI; Fort Worth, TX; New York City, NY; and Nashville, TN) and over 100 citizens on-line took part in The Genetic Town Hall: Making Every Voice Count. Participants were provided with background information about the technology and issues, heard contrasting viewpoints from “the experts”, and engaged in discussion with their fellow citizens about the issues of concern to them. The Center does not advocate for or against these technologies or for a particular policy outcome. Rather we believe that policy makers should have access to objective analysis, comprehensive information about what the public hopes for and fears from these technologies, and robust policy options to guide the development and use of reproductive genetic testing. Scientific Background Genetic testing is the laboratory analysis of DNA, RNA, or chromosomes. Testing can also involve analysis of proteins or metabolites that are the products of genes. Genetic testing is done to predict risk of disease, screen newborns for disease, identify carriers of genetic disease, establish prenatal or clinical diagnoses or prognoses and direct clinical care. Testing can be done using many different biological samples, including blood, amniotic fluid (from which fetal cells are obtained) or individual embryonic cells. Two forms of analysis are possible. Cytogenetic analysis is used to detect abnormalities in chromosomal number and/or structure. Molecular genetic testing examines the DNA sequence of individual genes. In general, prenatal screening includes those tests and procedures used to assess fetal risk for an abnormality, including genetic disorders. It does not provide a definitive diagnosis of a genetic abnormality but indicates whether diagnostic tests are warranted. The advantage of prenatal screening is that a normal result provides earlier reassurance and an abnormal result allows the option of further diagnostic tests. Prenatal genetic testing (or prenatal genetic diagnosis) is genetic testing of fetal cells obtained through procedures such as amniocentesis and CVS. Prenatal genetic testing of a fetus requires two steps: an invasive procedure (amniocentesis or CVS) to obtain fetal genetic material and an analysis of the material to identify genetic abnormalities or characteristics. Fetuses may be at increased risk for genetic abnormalities because of the mother’s age (35 or greater at delivery), because the parents already have a child or other family member with a genetic condition, because one parent has a balanced chromosome rearrangement or because prenatal screening or carrier testing indicates an increased risk. Amniocentesis is usually performed in the second trimester of pregnancy, at approximately 15-20 weeks gestation. A small amount of amniotic fluid is removed from the sac that holds the developing fetus. The fluid contains fetal cells that provide the material for genetic analysis. Amniocentesis is generally considered a relatively simple and safe procedure when performed by an experienced physician. Although miscarriage after amniocentesis is infrequent (one in 200-400 cases), it is a major reason the procedure is not routinely offered to all women. Infection and leakage of amniotic fluid are other rare complications of amniocentesis. Chorionic villus sampling (CVS) is an alternative to amniocentesis, and can be performed during the first trimester of pregnancy. Fetal cells are obtained through biopsy of the chorionic villi — the cells that will become the placenta. CVS is generally done at 10-13 weeks gestation. Fewer physicians do CVS than amniocentesis, and as a result, it is not available in all areas. The risk of miscarriage after CVS is approximately 1 in 100, as compared with the 1/200-400 risk following amniocentesis. CVS can be used to determine all disorders that can be diagnosed by amniocentesis except the presence of neural tube defects, since CVS does not include analysis of amniotic fluid alpha-fetoprotein. Prenatal Genetic Testing: Points to Consider With that background in mind, I would like to make five main points about prenatal genetic testing. 1. Information and its use. Genetic tests give information - information that, in the reproductive context, can provide great reassurance or precipitate a decision. Before pregnancy, prospective parents may learn through carrier testing whether or not they are at risk of having a child with a genetic disease and may have to decide whether or not to try to have a baby. During pregnancy, prenatal genetic testing can rule out or diagnose a genetic disease in utero. When a genetic anomaly is identified, prospective parents make the difficult decision of whether to continue a pregnancy, or not. There are a host of issues related to prenatal genetic testing. Some of the issues relate to the information obtained from the testing, others relate to the profound decisions that prospective parents make based on the results. But I want to emphasize that the decision to have a genetic test - to get information - and the decision about what to do with the information, are two separate, but interrelated issues. People differ in their desire to obtain information about the future. Since most genetic tests show no genetic problems, many find the information reassuring. Others want the information in order to have the opportunity to prepare emotionally, financially, and medically for the birth of an affected child. For these individuals, knowing as much as possible about the health of the fetus, as early in the pregnancy as possible, is of primary interest. Others, however, prefer to decline testing and welcome the child first, and then address any health problems the child may have. For them, prenatal testing may seem intrusive and unnecessarily worrisome. For couples who would consider abortion in case of a serious genetic condition, information about the condition and the prognosis helps them make the decision whether or not to terminate the pregnancy. There are probably as many reasons to undergo prenatal testing — or to refuse it — as there are parents. Whether someone will ultimately accept or decline testing, and what course of action they will take based on the information testing provides, is impossible to predict. But as this Committee considers whether prenatal genetic testing is in need of Congressional attention, I would urge you to treat the information and the decision about what to do with the information as separate matters. 2. Preserving the right to know – and not to know The philosophy of those providing reproductive genetic testing is “non-directive” genetic counseling. Simply put, this means that, because the implications of these decisions are so profound and so personal, the decision whether or not to have prenatal genetic testing, and what to do with the test results, must reside with the prospective parents. Indeed there is strong support among Americans for this approach. A majority of Americans (64%) agree with the statement “We ought to let people decide for themselves when it is appropriate to use reproductive genetic technologies because the consequences are so personal.” Although most health care providers practice non-directive counseling in providing information about the risks and benefits of testing and the choices that may be faced depending on results, some observers have raised the concern that prospective parents may feel pressured to agree to prenatal genetic testing – pressure from their health care provider or from society at large. Some fear that as testing becomes available for an increasing array of inherited diseases and conditions, couples will face growing medical and societal pressure to use all available technology—on the theory, perhaps, that if it is knowable, it should be known. Fear of liability – that they could be charged with failing to consider all potential genetic problems – could drive providers to seek as much information as genetic testing can provide. And as screening and testing become earlier and capable of detecting a broader range of conditions, the concern is that society will see reproductive testing as the “right” and “responsible” thing to do. Some believe that individuals will face growing medical and societal pressure to avoid the birth of a child that has not “passed” all the requisite genetic tests. On the other hand, some have argued that the more widespread genetic testing becomes, and the more each individual knows about his or her unique genetic makeup, the more society will be tolerant of human differences. Rather than expecting each fetus to meet some definition of genetically “normal,” the knowledge that no individual is a “perfect specimen” may lead to greater acceptance of every individual and less pressure to use all available technology to have a “perfect” child. Our policy report addresses these issues. Clearly, attention should be paid to preserving the rights of prospective parents not to use prenatal genetic testing. This can be accomplished by improving the counseling and access to information couples receive. Currently, information about prenatal testing is conveyed in a variety of settings and contexts. Sometimes it is a physician who discusses prenatal testing with the patient, sometimes a nurse or midwife and sometimes a patient is referred to a genetic counselor. Providers have varying levels of knowledge and comfort discussing these issues, and often very little time in which to cover all of the information adequately. Thus, patients may end up making decisions based on incomplete or inaccurate information. Some may proceed with testing without fully considering the decisions they may have to make depending on the results of the tests. Health care providers may present these tests as routine, just like all the other tests one gets during pregnancy, which may explain why patients sometimes report feeling pressured to agree to testing. Enhancing the genetic literacy of providers or providing better access to genetic counseling could help alleviate these concerns. If a genetic condition is found during prenatal genetic testing, careful attention to how test results are conveyed and ensuring parents have access to the complete clinical picture can assist families in making informed decisions. Some disability advocates say that providers who discuss prenatal screening and testing describe conditions in the most extreme clinical terms and assume that parents will want to terminate an affected fetus. They believe that providers are predisposed to counsel in favor of that decision, without giving sufficient context to the prospective parents about what it would actually be like to raise a child with the particular disorder. One direct approach is to enhance the counseling available to parents by making sure that genetic counseling includes access to information from people living with genetic diseases and their families so that prospective parents may better understand the reality of having a child with the disease. Patient advocacy organizations working on behalf of people with the condition could work with providers to facilitate such interactions. Importantly, a more direct or holistic approach would be to ensure that society continues to support all prospective parents, including those who make the decision not to test, or not to end a pregnancy and that there continues to be a range of legal protections and support for people with disabilities and their families. 3. Ensuring test accuracy and quality care The decisions made on the basis of prenatal genetic tests are weighty – if a prospective parent is going to decide whether or not to continue a pregnancy on the basis of a test result, the accuracy and reliability of the test is of utmost importance. The prenatal genetic tests routinely used have low false positive and false negative rates and are of generally high quality. But, right now government oversight of genetic testing is patchy at best. There are at least two issues here. The first is to make sure that a test is clinically valid before it goes to market. The second is to ensure that laboratories are performing the tests correctly so that the results are reliable. More attention needs to be paid to the role of federal agencies in making sure that genetic tests being used by laboratories are accurate and reliable. In our policy report we provide a detailed analysis of the current regulatory environment for reproductive genetic testing. Government oversight in this area is limited and fragmented. There is no government review of tests by the Food and Drug Administration (FDA) or any other federal agency before they are marketed. In addition, although laboratories performing prenatal genetic testing are regulated by the Centers for Medicare and Medicaid Services (CMS) through the Clinical Laboratory Improvement Amendments of 1988 (CLIA), there are no specific requirements under CLIA to show proficiency in molecular genetic testing, making it difficult to evaluate laboratory performance of genetic tests. Interestingly, in our 2002 survey, we found that only 30 % of respondents knew that the federal government does not review or approve reproductive genetic tests before they go on the market. One possibility is to increase federal oversight of genetic testing to ensure it is accurate and safe. FDA and CMS may have the authority currently to expand their role. In addition, Congress could pass legislation delegating additional authority to these agencies to ensure that prenatal genetic testing is done right. Although professional groups have issued guidelines for providers for the appropriate use of some genetic tests, there are currently only a handful of guidelines for a genetic testing compared to the large number of genetic tests available. The number of genetic tests available is rapidly increasing, and there is no technological barrier to using them in prenatal genetic testing. In the absence of government regulation, professional self-regulation is often a valuable tool. But the sheer number of tests and the speed with which they are developing, means that professional societies such as American College of Obstetricians and Gynecologists and the American College of Medical Genetics are hard pressed to keep up. In our policy report, we propose several options to address the need for more professional guidelines in the absence of more robust federal oversight. One possibility would be that federal funding could be made available through the agencies of the Department of Health and Human Services to help facilitate guideline development. As mentioned previously, another approach to improving care is to improve the information that patients have. The quality of patient care would be enhanced if health providers were more knowledgeable about testing and prospective parents had all the information and counseling they needed to understand the choices they are making and the implications of those choices. Perhaps most importantly, counseling, screening and testing needs to be offered when parents are able to make the best use of the information. Most experts agree that genetic risk information and reproductive genetic testing options should be discussed with prospective parents before pregnancy during routine visits. The health care provider should take a family history and assess genetic risk based on family history, maternal age and ethnic background and discuss carrier testing options. Carrier testing done before pregnancy allows prospective parents to know their risks without having to make a decision to terminate a pregnancy. 4. For what purpose There are many different genetic tests available, and questions abound as to whether, and how to regulate what people are testing for. There are tests for fatal childhood conditions such as Trisomy 13 or Tay Sachs disease. There are tests for serious disorders including Down syndrome, cystic fibrosis, and sickle cell anemia. Tests are also available for adult-onset disorders, such as Huntington disease, that would not affect the individual for many years, during which time a treatment may be discovered. There are also genetic tests that identify predisposition to, or increased risk of, developing a disease such as breast cancer as an adult. There is considerable debate about which of these tests are ethically appropriate for use in the reproductive context. Many observers are concerned that the use of prenatal genetic testing will escalate to the point where it is used to test for what some call “designer traits” – characteristics unrelated to health such as intelligence or athletic ability. These most controversial tests, however, are not yet, and may never be, available in any context because these complex attributes result from the interaction of a host of environmental and genetic factors. Americans’ support for the use of reproductive genetic testing depends heavily on the circumstances under which it is being used. In a 2004 survey conducted by the Genetics & Public Policy Center, respondents were asked a set of questions about the appropriateness of using prenatal testing to find out whether a fetus will: · develop a fatal childhood disease; · be a good match to donate his or her blood or tissue to a brother or sister who is sick and needs a transplant; · have a tendency to develop a disease like adult-onset cancer; · be a certain sex; and · have desirable characteristics like high intelligence or strength (hypothetically). About two-thirds of the general public approved of the use of prenatal genetic testing for a fatal childhood disease and for tissue matching. A slight majority of survey participants approved of using reproductive genetic testing technologies to identify alterations associated with a tendency to develop an adult-onset disease like cancer. There was less support for using testing to identify or select sex and a majority disapproved of using hypothetical prenatal genetic testing to identify characteristics like intelligence or strength. Thus, a majority of Americans approve of prenatal genetic testing to identify health-related genetic characteristics and a similar majority disapprove of its use to identify traits. Attitudes towards prenatal genetic testing vary somewhat by race, education, religion, income and, as shown, by sex but follow the same general pattern with a majority of all groups supporting prenatal genetic testing for health-related uses. 5. Diverse Views on Government Oversight of Prenatal Testing Lastly, I would like to share with you some insights into what the American public thinks is the appropriate role of government in overseeing the development and use of reproductive genetic testing. In our April 2004 survey we asked 4,834 individuals whether the government: · should regulate prenatal genetic testing based on quality and safety · should regulate prenatal genetic testing based on ethics and morality · should regulate prenatal genetic testing based on both quality and safety AND ethics and morality · should not allow prenatal genetic testing at all · should not regulate prenatal genetic testing at all. Their responses are shown in the graph below and reveal the remarkable diversity of views present among Americans. In conclusion, genetic tests provide information. There are a number of steps that could be taken to ensure that people have the right to know and the right not to know genetic information, to ensure that the information is accurate, and that society continues to support all prospective parents and their children. The Genetics and Public Policy Center would be happy to provide additional information and analysis as you consider prenatal genetic testing or other issues raised by advances in human genetics. Thank you.
Dr. Brian Chicoine
Chairman Brownback and distinguished members of the Senate Commerce Subcommittee on Science, Technology and Space, I thank you for giving me the opportunity to testify about Prenatal Genetic Technology Testing. I am Brian Chicoine, MD, Medical Director of the Adult Down Syndrome Center of Advocate Lutheran General Hospital in Park Ridge, Illinois. I would like to share with you my perspective on genetic counseling and information provided to families prenatally and how it relates to my work in addressing the health needs of adults with Down syndrome. I would like submit a more comprehensive written statement for the record. If a literature search is conducted researching “Down syndrome,” one finds that the majority of citations deal with prenatal diagnoses. The focus is mostly on screening blood tests, characteristics or findings on ultrasounds, and other methods used to diagnose Down syndrome prenatally. A smaller number of citations can be found on optimizing care for people with Down syndrome. Little or no research can be found on prenatal counseling, particularly with regard to the issue of providing information about adults with Down syndrome. Health care professionals need to be sensitive to the needs of families for genetic counseling that is both supportive and balanced. Researchers should examine the individual experience of each family in order to determine how best to accomplish this goal. At the Adult Down Syndrome Center at Advocate Lutheran General Hospital, we work to provide the best information and care for adults living with Down syndrome. Adult Down Syndrome Center at Lutheran General Hospital The Adult Down Syndrome Center is a unique collaboration among the National Association for Down Syndrome, Advocate Medical Group, and Advocate Lutheran General Hospital. The Center opened in January 1992 at the request of the National Association for Down Syndrome, the parent group that serves the Chicago metropolitan area. These parents identified a need to provide high quality health and psychosocial services to their adult children. We have grown to a full-time Center and now serve more than 2,500 adults with Down syndrome. In addition, we have published numerous articles and have presented many times at educational forums, including the World Health Organization and the National Down Syndrome Society. Down Syndrome Down syndrome is the most common chromosomal cause of mental retardation. The incidence is approximately 1 out of 800 to1,000 births. It affects all races, cultures, and nationalities. Of the people with Down syndrome, 95% have an extra chromosome 21 and the other 5% have partial triplication of the 21st chromosome. Generally, the risk of recurrence of Down syndrome in future pregnancies is 1% greater than the baseline risk. The baseline risk for having a child with Down syndrome increases with maternal age. Blood testing (maternal triple screening) is used as part of a screening process, particularly in younger women. This detects 60% of trisomy 21 pregnancies with a 5% false positive rate. Amniocentesis or chorionic villus sampling are required to make a definite prenatal diagnosis and are generally offered to women over 35 years of age and those with a positive blood test.. It is difficult for me to paint an accurate picture of adults living with Down syndrome. Trying to sum up a wonderfully diverse group of people is quite a challenge if you have not met them personally. On average, adults with Down syndrome function in the mild to moderate range of mental retardation, but the range runs essentially the full gamut. However, increased level of function is clearly an area that is expected to improve with early intervention and other opportunities. I tell young families that over time we may see “two syndromes”. Our older patients often had little education and inadequate health care as children and few opportunities as they reached adulthood. The younger people with Down syndrome not only have better education, health care, and opportunities but there are increased expectations for their success. We are seeing greater achievement and independence. Information and Counseling about Down Syndrome For years families were told that their child with Down syndrome would not survive into adulthood. This advice guided the families’ expectations for their sons and daughters. It has caused families to lower their expectations, inadequately prepare for the full life span of their child, and left them unprepared to deal with health and other issues of their adult child. During this time, the median age of death of a person with Down syndrome rose from 25 years in 1983, to 49 years in 1997. The life expectancy of a person with Down syndrome is now 56 years. However, families have not been getting accurate information. Misinformation has also been given to families prenatally. Families have shared with me some of their stories about the types of information they received when they were pregnant with a child with Down syndrome. Some of the information is correct but some is incorrect and the information often overemphasizes the negative. Some of the information provided during counseling is correct. Adults with Down syndrome have a greater incidence of certain health conditions such as diabetes mellitus, obesity, osteoporosis, celiac disease, sleep apnea, hypothyroidism, atlantoaxial instability and other conditions. Some of the information presented is incorrect or misleading. For example, families are often told that all people with Down syndrome develop Alzheimer’s disease at a young age. It has been demonstrated that people with Down syndrome over the age of 35 or 40 develop the microscopic changes that are seen in Alzheimer’s disease. However, the incidence of clinical Alzheimer’s disease does not appear to be universal and may actually mirror the incidence seen in the general population, albeit on average 20 years earlier. There is much to be learned about Alzheimer’s disease in people with Down syndrome. Unfortunately, much unproven information has been recited to families as fact and has caused a great deal of confusion and concern. In addition, usually there is information about Down syndrome that is not shared. The incidence of most types of cancer is lower in people with Down syndrome. Hypertension is quite rare. Coronary artery disease, the leading killer of people without Down syndrome, is almost nonexistent in adults with Down syndrome. Asthma also seems to be less common in adults with Down syndrome. Beyond what is said, it is the context or how the information is communicated. If every parent were painted a picture of only the negative possibilities for their expected child, perhaps no one would give birth to a child. It is important to present a balanced picture of the strengths and challenges presented by these very special children. There are a number of health conditions that are more common in adults with Down syndrome. With improved health care and social, educational, and recreational opportunities, many of these problems are not inevitable and the incidence may be reduced. Obesity is a good example. It has been assumed that obesity was inevitable in adults with Down syndrome because of a slower basal metabolic rate. Research now shows that this is not true and the effects of healthier nutrition and an active lifestyle are now being investigated. One disease that is more common in adults with Down syndrome that would be expected to decrease with improved nutritional status and exercise and recreational opportunities is diabetes mellitus. There is no question that adults with Down syndrome face challenges. It is important that adults with Down syndrome, their families and health care providers have appropriate and accurate information to help them work through these challenges. It is important that the information be provided throughout the lifespan of a person with Down syndrome. I strongly recommend families who have a newborn with Down syndrome or are pregnant with a child with Down syndrome meet with other families who have a child with Down syndrome. There is some research that is available on the experience of families with regards to how they were told their newborn has Down syndrome. The majority were disappointed with how they were told or the information that was provided. Referral to a support group improved the experience. Conclusion People with Down syndrome are living longer, living more independently, and reaching for new heights. With good health care, opportunities for achieving their potentials and more realistic societal expectations, only greater accomplishments can be expected. Many of the people providing prenatal information about Down syndrome seem to know little about adults with Down syndrome. There is little research that has studied how information on children and adults with Down syndrome is being provided to families in prenatal counseling. Families have shared with me many of their stories and these studies suggest that there is much to learn. Healthcare professionals need to be sensitive to the needs of families for genetic counseling that is supportive and balanced. Researchers should examine the lived experiences of families in order to determine how best to accomplish this goal. This concludes my remarks. Mr. Chairman, thank you again the opportunity to speak about these important issues. I would be happy to answer any questions you may have.
Dr. John Bruchalski
My name is John Bruchalski and I am a Board Certified obstetrician and gynecologist. I have practiced in my field since 1987, which includes my residency, and I am thankful for this opportunity to testify at this hearing on prenatal genetic testing technology: science, policy and ethics. My career as a private practioner has spanned the recent developments in prenatal genetic testing for Down’s syndrome, Spina Bifida and now Cystic Fibrosis at the clinical level. I have spoken to thousands of families about these diseases and these prenatal tests. The emphasis of my testimony will be twofold: to show that the data we use for counsel is more confusing than clarifying and, secondly, that the conversation generated may cause irreparable damage in the parent child bond with implications of how that family views individuals with disabilities, or worse, how they view those who have had “abnormal testing” but are completely normal human beings. MORE CONFUSING THAN CLARIFYING We are speaking today about maternal SCREENING TESTS for conditions such as Down’s syndrome. Screening tests are not diagnostic tests. They are meant to be preliminary tests, universally applied to those in low-risk populations, the results of which determining who will be counseled to undergo much more accurate, but expensive and invasive , i.e. risky, diagnostic-grade testing. Screening tests such as the AFP or the Triple Screen have by their nature an inherently high inbuilt high false positive rate, (test abnormal, but subject is normal), because the threshold for declaring a screening test result positive is set to capture the most individuals who truly have the condition at the expense of including some, or in this case many, who do not. It is in this expense that the sloppiness of these tests is exposed, and the damage is done. Parents are presented with these screening tests as a common, indispensable, accurate, and normal part of the diagnostic evaluation of the prenatal medical process. The results of these tests provide a statistical threshold, risk estimate or likelihood (ie. 1/150, 1/7000, 1/50, etc.), that the blood taken from the Mom, tells her the risk to her unborn child, the foetus, has of carrying the disease that the test is SCREENING for. Many Moms’ are unaware that this is a screening test, and not a diagnostic, or definitive one. Then the next step becomes a procedure that aims to obtain tissue or fluid for definitive diagnostic purposes carrying a procedure related pregnancy loss rate of 1/200. (1) This is sloppy, defensive medicine. This data, given to parents lacks any diagnostic certainty concerning the health or the genetic makeup of their unborn child. Secondly, the attempt to mandate that all mothers have this test done, since 97% of children with Down’s occur in families with no previous history of the syndrome (2), and 88% are born to women under 35 years of age, is an attempt to prevent the “wrongful birth” legal outcome or any outcome which many feel should have serious consequences including legal liability for the clinician. This universal application of the screening tests for Down’s syndrome also lacks appropriate pre-test counsel such as meeting with families who have children with this condition. We attempt to do this with our patients, and after explaining the poor accuracy of this these tests, including the high false positive as well as false negative rates and the need for invasive testing to determine the true condition of the baby, most women do not opt for this medical screen. In fact we have many patients who transfer into our practice precisely because their prior obstetrical practice placed guilt and pressure on them to have this test that they truly did not want. In reference to the present recommendation for universal screening for cystic fibrosis, being an asymptomatic carrier of the genetic mutation that causes CF is prevalent (1/25 to 1/30) in the United States, and this carries some major pitfalls. The gene is very large and the sheer number of mutations that are possible, over 900 mutations described to date, make all at risk pregnancies not able to be identified. Therefore the American College of OB/GYN wants us “to offer” to all non-Jewish Caucasians and Ashkenazi Jews this screen that only looks at 25 of the most common mutations and this is up for yearly review. (3) This area of CF testing emphasizes that the data currently with the best of intentions and training is confusing, not clarifying for physicians and patients. With obvious lack of clarity in this area of prenatal testing, comes a subtle, yet profound undercutting of the unconditional parent-child bond. IRREPRABLE DAMAGE TO THE FAMILY “I spend an enormous amount of time talking with mothers trying to heal the damage that these test do.” One of my partners exasperatedly told me of his frustration with these tests. Let’s say the screening test is positive. The parents naturally ask, “Is my child OK? Is he/she normal?” Even if the definitive tissue diagnosis returns normal, these parents have not only been anxious about the health of their unborn child, they have been stripped of their joy about the pregnancy because seemingly no amount of post-procedural counseling can erase all of the anxiety in the minds and hearts of parents created by an abnormal screening test result. “There must have been something to it”. This anxiety and lack of joy translate into a stigma attached to this child for the lifetime of the parent-child family interaction. This stigma that something had to have caused this test to be abnormal carries the life of the child with those parents. This is irreparable damage done to the family bond. Also in doing the definitive diagnostic procedure such as amniocentesis and chorionic villus sampling, there is the very real possibility that the screening test gives us a false positive result which encourages us to do the definitive test, and while doing this procedure the membranes rupture and a miscarriage occurs, or a chronic leakage of amniotic fluid occurs, resulting in severe developmental damage to the fetus, only to find out that the child investigated by the prenatal genetic screening test was indeed healthy. The loss of a healthy child due to a procedure done because a screening test was believed to be more accurate than billed causes a profound fracturing in the doctor patient relationship. I know, I have personal experience in this regard. CONCLUSION The practical, clinical application of this prenatal genetic testing technology is fraught with sloppy, non-definitive relative risks. The unconditional love between parents and child, and the joy that this manifests is destroyed with conditional, cautious, stigmatization that last a lifetime. Because of the emotional and physical trauma that the Down’s syndrome story has provided us, and the fact I have a cousin with Down’s syndrome, I strongly advise this committee to continued study of these technologies and their implication for individuals with disabilities. BIBLIOGRAPHY 1. Prenatal Diagnosis of Fetal Chromosomal Abnormalities, ACOG Practice Bulletin, Number 27, May 2001. 2. Adams MM, et.al. “Down’s syndrome. Recent Trends in the United States. JAMA 1981; 246: 758-760. 3. Simpson Joe Leigh Genetic Counseling and Prenatal Diagnosis, Obstetrics: Normal and Problem Pregnancies, 4th edition edited by Gabbe, SG, Niebyl, JR, and Simpson JL., Churchill Livingstone, New York, pp187-219. John T. Bruchalski, MD, FACOG Daniel R. Fisk, MD, FACOG Tepeyac Family Center 11135 Lee Highway Fairfax, VA 22030 703.273.9440/9445 fax Info@tepeyacfamilycenter.com