It’s the stuff of prime time drama. A geneticist is conducting research on a particular family who has had a several baby boys with symptoms that include thick, wrinkled skin and who end up dying of heart problems in their first year. The geneticist suspects a genetic disease, and sets out to compare the genes of this family with other genomes. His data points to a particular genetic mutation that is likely the culprit. One of the women in the family, who has the mutation, became pregnant during the studies, but the geneticist could not tell her that she is a carrier because his analysis had not been confirmed in a national lab. As per the Clinical Laboratory Improvement Amendment, he is not permitted to give patient’s health information until his tests have been confirmed in a national lab. She had the baby. The baby had the disease, and died the same week that the geneticist published the paper announcing the genetic cause for the disease. Paper publication was permitted before telling his research subjects.
However, this isn’t fiction. The geneticist is Gholson Lyon and the situation is reported in Nature News. From the report:
Lyon knew from his study that the mother carried the mutation. But he was not allowed to tell her, because the analysis had not been performed in a laboratory that was certified under the Clinical Laboratory Improvement Amendments, which aim to ensure that clinical tests are accurate and reliable.
The baby was eventually born with the disease — called Ogden syndrome — and later died, in the same week that Lyon’s paper on the causative mutation was published.
There are three ethical issues that need to be addressed here:
- What is the reasoning behind prohibiting researchers from giving their subjects medical information?
- What is the impact of knowing about a possible mutation?
- What would be the impact of genetic screening of a fetus?
First, Dr. Lyon was not able to give any of the family members information stating that certain individuals may be carrying a gene that causes this disease because his studies had not been confirmed in an accredited lab. After this situation, Dr. Lyon recommended at the Personal Genome meeting at Cold Spring Harbor Laboratory “that researchers should routinely conduct their studies in certified laboratories so that they can provide participants with results as soon as possible…he plans to do so himself from now on.” The Clinical Laboratory and Improvement Amendments is a tome of information on how research on subjects should be conducted, including quality assurance, on every area ranging from chemistry to virology to immunology. Go here to download the PDF or read it online.
These amendments are likely in place to protect human subjects and provide a rigid set of guidelines for research. They are also likely in place to protect the researcher from lawsuits. While guidelines are important, the reasoning behind the guidelines should be prioritized rather than upholding the guidelines at all costs. Protecting the human subjects should be the priority. Perhaps Dr. Lyn could have informed the family of his findings, but with the proper qualifications. For example, he could ask the family’s permission to share his findings, and state that these findings are not conclusive.
Second, there are implications for someone knowing that they have a disease-liked mutation. In this case, certain family members are carriers, and their health is not necessarily affected. This knowledge could affect their decisions on whether or not to have children. However, with the advances in sequencing the human genome, scientists are finding that oftentimes the genetic factors contributing to a disease are more complex then were once thought. The genome does not always operate in a one-to-one correlation. For example, there are several factors that code for traits like hair color, not just one gene for hair color or eye color. It is not a simple case of one gene coding for one trait. Scientists have found genetic markers for several diseases; however, given the complexity of the genome, when a new mutation is identified and suspected as a link to a genetic disease, care and investigation are needed to confirm a direct genetic link.
Third, there are ethical implications for identifying genetic factors in fetuses. Based on the results we have seen in identifying Down ’s syndrome, some parents choose to abort a fetus that shows the genetic markers for the disease. In the case of Ogden Syndrome above, the child will likely not reach its first birthday, so does the parent have a right to know the risk? This situation can be compared to anencephaly, in which the baby is missing a large part of his or her brain and skull. The baby usually dies several days after birth. However, anencephaly has a more conclusive diagnosis than Ogden Syndrome does . If Dr. Lyn had told the woman about the mutation, would she have aborted the baby? That would be a risky decision to make, especially given that the disease-mutation link was still in research stages.*
This is not an easy situation; one can see the justification both for the guidelines and for a researcher being allowed to tell his patients his findings. There are privacy factors, protection of the fetus, human subject rights, and the responsibility of the researcher. Furthermore, the genome is turning out to be far more complex than many scientists had once thought, calling into question several assumptions in medical genetics. However, we want to use what information from genomic testing we have to make informed medical decisions now.
*I am not necessarily advocating abortion as the best or only option in cases where babies have a grim prognosis. This is a delicate and difficult matter that is beyond the scope of this post.
Note: This post was corrected on 10/19 from its original publication on 10/17.