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Designing Genes Through Diagnosis

Released: 1/6/2014 10:00 AM EST
Source Newsroom: American Association for Clinical Chemistry (AACC)
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Citations Clinical Chemistry 60:1 25–28 (2014)

Jan. 7, 2014 - WASHINGTON – Jodi Picoult’s 2004 novel My Sister’s Keeper became a bestseller by exploring the fate of a young girl who is genetically engineered to be a donor match for her cancer-stricken older sister. My Sister’s Keeper is fiction, but it is based on the reality of preimplantation genetic diagnosis (PGD). A new Q&A in the “Advancing Women’s Health” issue of Clinical Chemistry, the journal of AACC, explores the ethics of PGD, a form of genetic testing that has already made it possible for parents to conceive a child who is a donor match for a sick relative, who shares their minor disability (such as deafness), or to select gender.

Listen to a podcast with Q&A moderator Ann M. Gronowski, PhD, and bioethicist Arthur L. Caplan, PhD.

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PGD was developed after the invention of in vitro fertilization and the ability to culture embryos in vitro, and in many respects, it is similar to the prenatal diagnosis used to screen fetuses for genetic diseases before birth. Its advantage is that it allows parents to choose which embryos to implant in the uterus, thereby avoiding selective pregnancy terminations. For older mothers or couples who are carriers of a genetic disease, the ability to screen for embryos free of certain genetic mutations can play a critical role in ensuring their child is healthy. The more recent and nonstandard uses of PGD listed above, however, have raised ethical concerns, particularly that PGD is veering into the realm of eugenics.

In this Q&A, PGD laboratory director Richard T. Scott, Jr., MD, of Reproductive Medicine Associates of New Jersey, Morristown, N.J.; bioethicist Arthur L. Caplan, PhD, of the New York University Langone Medical Center, New York; and attorney Lawrence J. Nelson, PhD, of Santa Clara University, Santa Clara, Calif., discuss their views on the ethical challenges PGD presents. Former AACC President Ann M. Gronowski, PhD, of the Washington University School of Medicine, St. Louis, acts as moderator.

“I think many infertility clinics will be offering PGD for eugenic purposes and there will be plenty of demand for such services,” said Caplan, when asked where he thinks the field will be in 20 years. “I think there will be a huge ethical controversy concerning the practice, in that competent counseling may not be an essential part of what many clinics are offering. There will also be keen ethical concerns about the equity of access to such services, in that the rich will have far greater access than the poor.”

Scott tempers this alarm by pointing out that extensive research is still needed to fully understand which mutations in our Genetic-Code'>genetic code cause disease. By extension, it could be a long time before we grasp the human genome’s complexities well enough to optimize traits by rewriting it. Until then, the Clinical Chemistry Q&A aims to raise greater awareness and spark further debate about this complicated issue.

For more, follow us on Twitter at @_AACC and @Clin_Chem_AACC.

Twitter Chat
To add your voice to the conversation, join Dr. Gronowski (@Clin_Chem_AACC) for a Twitter chat on maternal-fetal medicine and reproductive health.

Thursday, January 16
2 p.m. EST

About AACC
Dedicated to achieving better health through laboratory medicine, the American Association for Clinical Chemistry (AACC) brings together more than 50,000 clinical laboratory professionals, physicians, research scientists, and business leaders from around the world focused on clinical chemistry, molecular diagnostics, mass spectrometry, translational medicine, lab management, and other areas of breaking laboratory science. Since 1948, AACC has worked to advance the common interests of the field, providing programs that advance scientific collaboration, knowledge, expertise, and innovation. For more information, visit

Clinical Chemistry is the leading international journal of clinical laboratory science, providing 2,000 pages per year of peer-reviewed papers that advance the science of the field. With an impact factor of 7.9, Clinical Chemistry covers everything from molecular diagnostics to laboratory management.


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