Wednesday, May 07, 2008

We haven't seen Dr. Wagner in the news lately, and by the way the little guy who was so sick who he transplanted is doing okay now, but here is Dr. Hughes.

I am writing this while I watch a documentary that I learned about from our friend Cindy Bullens. The movie is called Space Between Breathes. It is about parents who have lost children.

A mom who lost her son just said how deeply you grieve is a measure of how intense you love. I loved you a lot.

The Ethics Of Reproductive Technology Debated
06 May 2008

New advances in reproductive technology have pushed medical diagnostics to both theoretical and practical limits, according to Mark Hughes, MD, PhD, director of Genesis Genetics Institute in Detroit and director of the Applied Genomics Technology Center of Michigan, who spoke at the opening session of The American College of Obstetricians and Gynecologists' (ACOG) 56th Annual Clinical Meeting.

"The rapid growth and clinical adaptation of genetically based information and technology are fundamentally changing the practice of medicine, especially for ob-gyns," said Dr. Hughes. Because of these advances, there are technologies now available to couples wanting to avoid inherited disease in their offspring even before a pregnancy begins.

"Knowing the roadmap of the human genome gives us powerful tools to help our patients in ways we might barely have imagined just a few years ago," added Dr. Hughes. "In ob-gyn this information presents especially complex practice dilemmas."

The field of reproductive medicine, perhaps more than any other field, is continually confronted with ethical considerations. "Just because we technically can do something doesn't mean we should," noted Dr. Hughes. "Through the ages, technology has been the fuel that drives the engine of science, and science is the vehicle that propels the progress of medicine, and medicine routinely drives us into bioethical corners.

"Preimplantation genetic diagnosis was invented 18 years ago, and it's come a mighty long way," said Dr. Hughes. "It is now possible to detect quite complex problems in the smallest unit of life (one cell), in the smallest unit of inheritance (one gene), for the smallest part of a gene (one DNA nucleotide), out of 3.3 billion letters that comprise the human genome. "Even in 100 years of medical advances, diagnostics will not be smaller than examining-overnight-one molecule. The technology itself will surely evolve with time, but we are now at the limits of the biology that can produce severe pathology in our patients," added Dr. Hughes.

Preimplantation genetic diagnosis (PGD) is a reproductive technology used with an in vitro fertilization cycle. It involves testing the genetic material of embryos to look for specific genetic mutations or chromosomal rearrangements. It is generally used by patients who know they are at risk of transmitting a genetic disease or chromosomal abnormality to their offspring.

For example, a couple could face a 25% or 50% risk of a producing a child with a particular disease. This risk is not trivial, Dr. Hughes said, and many couples choose not to have children. Other couples may accept this high risk and wait anxiously during the first months of pregnancy, wondering if their fetus has cystic fibrosis, muscular dystrophy, hemophilia, or any one of hundreds of genetic disorders.

"Their anxiety is significant. Do they want diagnostic testing such as chorionic villus sampling (CVS) or amniocentesis, and what will they do with the information after they have it?" commented Dr. Hughes. "By testing a fertilized egg prior to implantation, modern science can now eliminate this risk and this stressful time for couples."

PGD has largely been used to help couples who suffer with infertility and for couples at risk of having children with a heritable genetic disease. The concern now, however, is that the technique might be used to select characteristics that range from less serious disease to purely matters of preference, such as gender.

"Who decides what's ethical and what isn't?" asked Dr. Hughes. "It varies from one country to the other." Dr. Hughes points out that while most people approve of a couple finding out before implantation whether an embryo has a lethal disease, the discussion becomes murkier when it concerns a non-fatal disease or condition or even gender.

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