Opinion: It’s Not Science Fiction – Dr. Marcus Hughes visits campus, presents genetics work

I was born with a congenital heart defect that required surgery at the University of Michigan. It ended up costing just under $1 million. If my parents could have used pre-embryonic diagnosis, would it have made a difference? Would they have even considered it in the first place?

On Feb. 22, Dr. Marcus Hughes, president of the Genesis Genetics Institute, presented “Improving Lives, One Gene at a Time.” The institute offers pre-implantation genetic diagnosis (PGD) services, which Hughes developed as a part of the National Institute of Health’s Human Genome Project.

“My goal in life would be to make this technology obsolete,” Hughes said. “‘Cure’ has got to be the mantra, but we’re not there yet.”

Hughes, a clinical geneticist, has done extensive international work on bioethics and genetics. His lab has developed over 120 probes to detect single gene-defects. Hughes also collaborated with physicians in four West African countries to create a $36 sickle cell anemia test.

“We’re making stem cells with the University of Michigan from these diseased embryos,” Hughes said.

A part of the presentation focused on patients with Huntington’s disease, cystic fibrosis, sickle cell anemia, Duchenne muscular dystrophy and other conditions.

Personally, I do not see pre-embryonic diagnostics as unethical because PGD only advances medicine. It’s useful.

“Let’s suppose that I know my mother has [Huntington’s Disease] and I’m scared because I haven’t had a blood test,” Hughes said. “… Well, I could just give a little blood sample and it would cost about 90 bucks.”

These innovations are not something you would find in a sci-fi book. Hughes is not talking about producing a perfect child or cloning individuals, but he is talking about preventative medicine. His lab is making progress in genetics, and this progress has implications for the future of health care.

He closed his presentation with an anecdote. After a year of international debate over a case that challenged bioethics, the father of a patient entered Hughes’s lab:

“He hit his fist on the table and looked me in the eye and said, ‘Damn you.’ I have never in my life had a patient say that to me… and what he said [next] was, quote, ‘Doctor Hughes, while you’ve been running around the world, sitting around tables in foreign countries, debating the bioethics of all of this, our daughter is dying. Give us a break.’”

Photo courtesy of Wikimedia Commons.

About Nicholas Diamond 50 Articles
Nick is a junior from Rochester, Mich., majoring in French and minoring in cell and molecular biology. He has interests in serving Doctors Without Borders and in writing medical journalism. Follow him on Twitter @docteur_diamond.

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