The Brave New World of Pre-Implantation Genetic Diagnosis. 

The Brave New World of Pre-Implantation Genetic Diagnosis. 

by | November 1st, 2014


Dr. Joel Batzofin responds to the October 26th 60 Minutes story on PGD

9347596_sFor those of us involved in the world of fertility treatments, either as patients or providers, it will come as no surprise that we are in the midst of an exponential growth of the field of Preimplantation Genetic Screening or Diagnosis. Initially described in the 1990’s, due to evolution in the available technology, now incorporating Array CGH ( Comparative Genomic Hybridization), by removing a very small amount of tissue from an early embryo, considerable chromosomal and now genetic information can be obtained. As is frequently the case when dealing with rapid advances in technology, ethical questions emerge and the answers to these questions, are not always readily apparent.

On October 26th, 2014, 60 Minutes aired a show highlighting some of these ethical dilemmas. Interviewed were pre-eminent researchers Dr Mark Hughes and Princeton University molecular biologist Professor Lee Silver. Having been involved in this field of medicine for many years, I watched with intrigue. Dr Hughes explained that conditions such as Cystic Fibrosis, Breast Cancer, Huntington’s disease amongst others, are frequently tested for in his lab. Any person would be impressed to learn that the available technology can reliably rule out such devastating illnesses.

Professor Silver explains that his company Gene Peeks, is able to create so called “digital babies” of the intended parents. Using his patented technology, at a price of $2,000, by testing saliva samples of the parents, he claims to be able to reliably calculate the risk of two people having an affected child, with some 500 severe recessive disorders. Most of us carry recessive genes and problems arise when two people carry the same recessive genes, giving a 50% chance of the offspring being affected. This is obviously impressive and important work.

However, where the situation becomes ethically challenging and complex, is that using the same technologies, the scope of services offered by Silver’s company, can be expanded to include things way beyond prevention of disease. For example, things such as a widow’s peak, eye color, hair color or social intelligence, can be evaluated. Gene Peeks are able to study any trait that is genetically influenced. Personally, I find such concepts to be rather repugnant because it is not a far leap until we get solidly into the realm of so called “designer babies”.

When challenged on this concept during the interview, Professor Silver states that he will not use the technology for such purposes but instead, he will only study what he calls “pediatric disease”. He implies that we should trust him, even though he admits there are no rules. I do not believe it is safe to allow such practices to proceed without strict guidelines and rules of what is acceptable and what is unacceptable. We all understand that complex technologies push the boundaries. However, those who set policy in our field, rapidly need to set strict criteria for what we as a society will accept and what is ethical. This is similar to the bans that were put in place by President Clinton when it became obvious that human cloning was possible. I do not believe we can leave it to chance, or to an individual who holds a patent on a technology, that we need to trust him. This is after all the same person who mentioned that in the future, people will not want “natural reproduction” because it is too dangerous and that everyone will need to avail themselves of these technologies. Practice Guidelines need to be established by a group of qualified professionals, to outline acceptable and ethical practices. Nobody is going to argue that the technology should be made available to those trying to avoid such devastating illnesses as muscle dystrophy. I do not believe that as a society, we want to travel down the slippery slope of creating so called “designer babies”. Allowing those practices to advance, inevitably will not end well.

See the 60 Minutes news spot on PGD>>

, , , , , , | Fertility Ethics genetic screening


The founder of New York Fertility Services, Joel Batzofin, M.D., began practicing at the advent of IVF. Fertility centers evolved as groundbreaking treatments and family-building options emerged. Our fertility doctors practice at the pinnacle of reproductive medicine—the ‘sweet spot’ where science, art and intuition meld. We are strong believers in combining advanced reproductive technologies with proven holistic, Eastern medicine therapies.

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