PART II: The Legalities of Pre-Natal Genetic Testing

The world of IVF has introduced a host of ethical quandaries. For now, Alabamians will be spared the latest, i.e., purchasing tests to assist in genetically designing their future children, as Alabama’s high court has effectively foreclosed the procedure. But the laboratories offering these tests are based in N.J. and California, and it’s likely the world of genetic tourism will prosper.

You can find Part I here.

Testing for genetic diseases before embryo implantation is not new. It is conventionally done in tandem with IVF to deselect embryos with Mendelian diseases or those with abnormalities that preclude a successful pregnancy. Testing for genetic disease risks as adults to avoid precipitating lifestyle factors is also common. Commercial laboratories are now marrying the two technologies- offering embryo selection based on a pre-ordered set of health-related specifications. Birthing genetically bespoke babies is now a reality.

Because IVF enjoys lax governmental regulation, the technology (called PGT-P) is overseen by a handful of voluntary recommendations by relevant medical societies, including the American Society of Reproductive Medicine, the American College of Obstetricians and Gynecologists, and most recently, the American College of Medical Genetics and Genomics. Outside the context of IVF needed for fertility purposes, these groups oppose the technology based on medical and scientific reasons, including:

• The potential harms (to the fetus and its “gestator”) outweigh the benefits
• Tests are, at best, predictors of risk, not certainty of disease
• Accuracy of results for an individual, based on population studies, is unclear
• “Low risk” scores do not signify no risk, engendering false assurances of safety
• Risk communication of uncertain outcomes is difficult

While these are all valid objections backed by scientific data, the medical society consensus derives from deficiencies associated with limitations in today’s technology – deficiencies we can expect to be soon surmounted. Then what?

We turn to the ethicists, who raise the same concerns as the physicians and then tack on formulaic ethical principles, including social justice concerns. These, too, can be overcome. At the end of the day, as Ronald J. Wapner, the director of Reproductive Genetics at Columbia University, laments, there are no institutions or agencies and no structural basis, to evaluate the propriety of the technique when IVF is not indicated for fertility.

I suggest that a consideration of basic biological principles would provide absolute baseline principles, which currently are ignored. A look at legal manifestations would augment that approach and provide a more holistic assessment.   

Back to Biology

One cardinal requisite underpinning biology is the need for genetic diversity to ensure the survival of the species. Should PGT-P achieve recognition and affordability, our “tribalist tendencies” would tend to drive selection for the day's most “popular” traits. It is not unlikely we could have been blessed (or cursed) with a bevy of cultural “Barbies,” simultaneously deselecting for those who may be genetically more resilient to skin cancer or some as-yet-to-occur plague. Various societies might select for sex, based on religious or cultural predilections, leading to the demographic crisis now appearing in China, where insufficient females are available for reproduction.   Those with a genetic signature considered as “odd” today might be genetically exterminated – and yet might hold the key to species survival or major scientific contributions in the future.

For example, embryo selection strategies based on current health metrics offered by commercial laboratories would have deselected:

• Physicist Stephen Hawkings, who suffered from Lou Gehrig’s disease,
• Schizophrenic mathematician John Nash, and
• Dyslexic Nobel Prize winner Carol W. Greider, who discovered telomerase.

In short, neither the profit-making commercial laboratory nor the human parent-to-be is in the best position to choose what is best for the species. The unaddressed ethical question becomes, who is the guardian of humankind?

“An allele that confers a noticeable disadvantage at one stage of life may also favor the individual at another stage of life….” 

Another ever-present biological feature, unchanged across the millennia, is the principle of pleiomorphism, where one gene has both positive and negative consequences. These genetic alleles are alternative forms of a gene that arise by mutation and are found at the same place on a chromosome. Selecting against an allele with negative consequences may simultaneously deplete the population of its positive contribution, for example, simultaneously preventing malaria and beta-thalassemia while causing sickle cell disease. This principle is evolutionarily driven and will not change no matter how advanced or precise the screening technology becomes

Moreover, our “fitness” within the environment varies, changing a genes' positive and negative “values” over time and space.  Hence, selection criteria would depend on the life stage one enjoys. Why, then, should a prospective parent be empowered to choose a genetic signature that will govern a child’s entire life long before the child is born?         

Legal Principles at Play

Among the cardinal legal principles involved in PGT-P is the doctrine of informed consent. But whose informed consent should be sought? The simple answer is that the doctrine of “the best interests of the child “should govern.  When a child is under legal age  of maturity, that decision usually falls to the parent. However, what confers on the parent the knowledge –  or the right – to select features for their child when those features will appear during the child’s adulthood? How can an individual, let alone another person, even a parent, know what is in their best interests – or their child’s - in the future? At the end of the day, parental choice may well close lifetime choices for their child based on conflicting desires and present exigencies, which likely will change in the future.

Whose Genes Are These Anyway?

Perhaps the most poignant illustration of the untoward effects of “too much genetic knowledge,” a side-effect of PGT-P analysis even now in its “embryonic” stages, arose in the case of Chadam v. Palo Alto School District. The case was ultimately settled and thus has limited precedential impact, but it illustrates the real-world consequences of opening Pandora’s genetic box.

In 2012, Jennifer Chadam enrolled her son in his new school in Palo Alto. She had previously learned of her child’s predisposition to Cystic Fibrosis (C.F.) [1] from testing for an entirely different condition. Although the child (called C.C. by the court) was not suffering C.F. at the time of his enrollment, Mrs. Chadam disclosed that he had a risk of developing the condition on the school’s registration form. Children with C.F. can attend school, but their risk of untoward consequences is increased when they are exposed to other children who are suffering from the disease.

“On or about September 11, 2012, during a parent-teacher conference, one of C.C.'s teachers disclosed C.C.'s private medical information to parents of another student attending the middle school (Mr. and Mrs. X)….[whose own child was suffering from C.F.]. ….”

Sadly for CC, Mr. and Mrs. X did not want their children to be exposed to CC, even though there was absolutely no risk, his only having the genetic risk of the condition and not the disease itself. The inadvertent disclosure of C.C.’s genetic profile, however, resulted in public verbal abuse of CC by a teacher, his public humiliation and embarrassment, consequent eviction from school, and the ensuing and widely reported lawsuit.

Is it worth it?

In sum, PGS reports provide information on the risks of various diseases, like diabetes, schizophrenia, heart disease, and cancer. Most of these, like breast cancer, are unlikely to develop before the child reaches adulthood. The parent is selecting not only the health of the future baby but also the health of the future adult. Does a parent have that right?

A selected embryo may score a low risk in one category, which is of major concern to a parent, but a higher one in another, which may be more significant to the child as an adult. Assume the child has a low risk of schizophrenia but a higher risk of cancer. Does the parent share the information with the child?  What about the converse? 

More complications abound. Should the child be told of the risks he or she might suffer? What if the child doesn’t want to know? Will the parent’s knowledge cause them to treat the child differently? 

And who owns the genetic information: Shouldn’t ownership vest in the child, not their parents? Commercial enterprise is hijacking the essentiality of the future person, their genetic signature, and commoditizing it for sale. Traditional ethical principles don’t really provide the answers we need, and the medical rationale against use is limited in time and scope.

To truly appreciate all that is at stake, we will need transdisciplinary teams, doctors, biologists, and lawyers who are well-versed in the fields of others.

[1] Cystic fibrosis is an inherited disorder severely damaging the lungs and digestive tract. A defective gene causes cells to produce abnormally thicker and sticky mucus, sweat, and digestive juices that ‘instead of acting as lubricants, the secretions plug up tubes, ducts, and passageways, especially in the lungs and pancreas.”