Dr. Mark Hughes – A honorable man

Hello –
I am Mark Hughes, a physician-scientist in the USA. In 1991, it was my group of molecular biologists and geneticists in America who joined together with the pioneering team of Professor Lord Robert Winston, MD (the visionary Obstetrician-Endocrinologist) and Alan Handyside, PhD, (the pioneering Embryologist) at the Hammersmith Hospital-London. We performed the first cases of single-gene disease embryo testing – or Preimplantation Genetic Diagnosis (PGD). Multiple groups now perform this technology around the world, helping many couples. Indeed, we are “capable” of testing for many, many serious inherited disorders. This allows couples to begin a pregnancy on day one, with a commitment to continuing it and without 14-16 weeks of high anxiety, wondering whether an amniocentesis should be performed, let alone what in the world they would do with the information after they received it. The goal is to avoid pregnancy termination and help couples build a healthy family.
Let’s get our facts correct here: 1) No one would EVER test an embryo for 200+ inherited diseases. This is totally silly. I am certain that this is not what Dr. Fishel said, or meant to say. You don’t test the embryo for all these diseases – you test the prospective parents, the adults, who might be at risk for an inherited malady. (because of their ethnicity, for example). Most of us have no idea of the scores of lethal disease genes we carry in the genomic encyclopedia that make us who we are. This is because the good Lord and Mother Nature gave us two copies of most all genes – and the ones (many) with a mutation that we receive from our father is likely not matched by the mutations (many) we receive from our mother. So, we usually have a ‘back-up’ good gene copy from our opposite parent.
But, imagine if you have a baby with some very serious, oftentimes lethal disease. Most genetic diseases are bad-bad; there aren’t many cures for these fundamental problems with our genetic blueprint. Picture the excitement of having your own child and shortly thereafter the pain when you are told that it can not live. Now, in addition to the grief that brings, you are literally scared because you know it can happen again – with a 25% to 50% risk! THESE are the families that ask for PGD. 2) In 17 years of performing PGD embryo testing for many hundreds of couples, not one single person as even asked that this testing be performed for “designer baby” reasons. Not one. First, even if the technology was capable of it, (and it isn’t), you must actually HAVE the gene yourself before you can give it to your child…and for most ‘desired’ traits’ this biological fact rules out 99.9% of us. 3) No person, even a multi-billionaire, would willingly go through the process of in vitro fertilization, if they didn’t really have to do it. This is not fun. You certainly wouldn’t do it for trivial reasons. 4) No one, not one single person in 17 years, has asked for this technology to be used to produce a deaf baby. It is difficult to understand why people create fictitious stories, or title articles with “designer”, when they don’t understand the biology, the science, the medicine and mostly, the serious motivation driving desperate families to these extraordinary ways to have children. The only difference between these couples and the rest of us, is that we are blissfully ignorant of the very bad genes we all carry. Thank God we have that back-up copy from our other parent. But, if you could walk in the shoes of these fellow Brits, and feel their anguish over watching a baby they created die in their arms from some dreadful inherited condition, you might think twice before judging them with factletts of falsehoods. Until we have cures for these gawd-awful disorders, which stem-cell biology might (maybe, just might) assist in making reality, surely this technology is preferable to abortion at 16 weeks into a pregnancy. Someday we will have cures. Until then, PGD is truly does help couples build a healthy family. What is more honorable than that?
Prof. Mark Hughes, MD, PhD