Dr. Leonard Fleck, professor in the Center for Ethics, participated in a keynote debate this month as part of the 24th annual International Bioethics Retreat that was presented virtually from Paris. Each year, “experts in medicine, philosophy, law, and health policy are invited from around the world to present their current research projects.”
Within the debate format, Dr. Fleck addressed the question: “Whole Genome Sequencing: Should It Be Publicly Funded?” Dr. Fleck defended the affirmative in this debate, while Dr. Leslie Francis of the University of Utah defended the negative. Continue reading below for Dr. Fleck’s summary of the debate.
Whole Genome Sequencing: Should It Be Publicly Funded?
Below are the key elements in the affirmative side of that debate, as well as acknowledgment of legitimate points made by Dr. Francis.
We can start with the question of what Whole Genome Sequencing [WGS] is. It refers to creating a complete map of all three billion base pairs of DNA in an individual. Next, how might WGS be used? It can be used for preventive, diagnostic, therapeutic, reproductive, and public health purposes? It can be used by adults as part of a preventive strategy, i.e., identifying genetic vulnerabilities to disorders that might be managed or prevented through behavioral change. WGS can be used diagnostically to correctly identify very rare disorders that otherwise will require a costly and painful diagnostic odyssey. This is most often true in the case of infants.
WGS is used therapeutically in the case of metastatic cancer. Both the patient and cancer tumors would be mapped in order to find a genetic driver of the cancer that could then be attacked with a targeted cancer therapy, such as trastuzumab to attack a HER2+ breast cancer. WGS can be used in a reproductive context to do non-invasive prenatal assessment of a fetus. Likewise, some advocate using WGS to do neonatal genetic screening in place of the heel stick and blood draw that will test for 56 childhood genetic disorders. WGS could test for hundreds of very rare genetic disorders that can affect children. The public health context is very visible right now as we do WGS of the COVID variants now emerging.
Why public funding? The key argument is that it is a matter of health care justice. WGS costs about $1000 for the sequencing itself, and another $2000 for the analysis, interpretation, and counseling. Insurers will generally not pay for WGS. Roughly, only the top quintile in the U.S. economic spectrum can afford to pay for WGS out of pocket. This can yield significant health advantages for them, most especially avoiding various sorts of genetic harms. More precisely, the relatively wealthy might learn of one or more health risks through WGS that would suggest the need for additional testing and therapeutic interventions, all of which would be paid for by their insurance. The less financially well off may have good health insurance but be unaware of the need to use it in a timely way without the advantage of WGS. One possible result is that a curable disease becomes incurable when symptoms are clinically evident. This is an injustice that can be avoided if access to WGS is publicly funded.
My esteemed debate partner Dr. Francis emphasized that the ethics issues are much more complex than simply matters of health care justice. The distinctive feature of any form of genetic testing is that it yields considerable information about any number of first-degree relatives who may or may not want an individual to know that information. If we do WGS on a neonate, for example, we might discover that neonate has an APOE 4/4 variant for early dementia. That means at least one parent has that vulnerability, which they might not wish to know. In addition, do those parents have any obligation to notify any other relatives of their potential vulnerability? What if, instead, it was a BRCA1 mutation for breast or ovarian cancer? More problematic still, what if WGS is used at public expense in prenatal screening with the result that some parents choose to have an abortion. Would advocates for a Right to Life view have a right to object to their tax dollars being used to facilitate access to a procedure to which they conscientiously object? This is why we have debates.