On November 17, the Senate Commerce, Science, and Transportation Subcommittee on Science, Technology, and Space held a hearing to examine the efficiency and effectiveness of prenatal genetic testing technology and its implications for individuals with disabilities. The hearing was chaired by Subcommittee Chair Sam Brownback (R-KS).
Cheryl Sensenbrenner, wife of Rep. James Sensenbrenner (R-WI), testified on behalf of the American Association of People with Disabilities. “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,” she said. Speaking as a woman with a disability and sister of a woman with Down syndrome, Mrs. Sensenbrenner said, “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.”
Dr. Brian Chicoine, Medical Director of the Adult Down Syndrome Center of Advocate Lutheran General Hospital, agreed. He stated that misinformation is often communicated during these counseling sessions: “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.” Further, “some of the information is correct. Adults with Down syndrome have a greater incidence of health conditions such as diabetes mellitus, obesity, osteoporosis, celiac disease, sleep apnea, hypothyroidism, atlantoaxial instability and other conditions.” More importantly, he told the subcommittee, is the information 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.” Dr. Chicoine pointed out there is little research on how information is provided to families in prenatal counseling and recommended that researchers and health care professionals examine how best to gather this data.
Expressing his frustration as a practicing obstetrician-gynecologist, Dr. John Bruchalski of Fairfax, Virginia, explained the difficulty in trying to interpret and convey the results of prenatal tests to parents without causing “irreparable damage in the parent-child bond.” Stating that “screening tests are not diagnostic tests,” Dr. Bruchalski said, “Parents are presented with these screening tests as a common, indispensable, accurate, and normal part of the diagnostic evaluation of the prenatal medical process…Many moms are unaware that this is a screening test, and not a diagnostic, or definitive one. 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.” He added, “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 heart of parents…This anxiety and lack of joy translate into a stigma attached to this child.”
Dr. Kathy Hudson, Director of the Genetics and Public Policy Center at Johns Hopkins University, detailed two reports the center is about to release on the subject of reproductive genetic testing. One report found that two-thirds of Americans approve 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,” she said, adding, “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.”
Dr. Hudson also detailed several policy recommendations, including improving the counseling and information that couples receive, improving federal oversight and regulation of genetic testing to ensure that it is safe, and providing timely professional guidelines for health care professionals. “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…Enhancing the genetic literacy of providers or providing better access to genetic counseling could alleviate these concerns,” she said.
Andrew Kimbrell, Executive Director of the International Center for Technology Assessment, discussed the emerging technology of preimplantation genetic diagnosis (PGD) in which couples undergoing fertility treatments may have their embryos screened for various genetic diseases prior to implantation. “Unlike prenatal diagnosis, that might be used by a couple to prepare for a child that has a genetic disease, preimplantation genetic diagnosis is likely to result in a decision 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,” he said. Adding that PGD is “still an experimental procedure,” Mr. Kimbrell said, “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.” Mr. Kimbrell urged Congress to consider implementing regulatory guidelines for PGD such as limiting genetic testing to those conditions that result in an early and painful death, prohibiting “negative eugenics in the case of all other genetic conditions,” prohibiting the use of PGD for non-disease characteristics, and banning genetic modification of human embryos.
