Famous folk have been writing about their genome sequences for a few years now. But when I received two such reports at once last week – about genetics researcher Ron Crystal, MD, and a hypothetical (I think) story about President Obama, I knew it was time to take action.

Or, in my case, inaction.

After writing ten editions of a human genetics textbook and lots of articles, you’d think I’d be first in line to get my genome sequenced. But I prefer ignorance.

The quest to know ourselves by our DNA sequences began in the late 1980s, with the conception of the human genome project, and reached a milestone with the actual genome sequencing.

The Alden March Bioethics Institute offers a Master of Science in Bioethics, a Doctorate of Professional Studies in Bioethics, and Graduate Certificates in Clinical Ethics and Clinical Ethics Consultation. For more information on AMBI's online graduate programs, please visit our website.

When I was a fetus, I was left alone. My amniotic fluid and chorionic villi were untouched, and I arrived apparently normal, except for a mark on the part of my anatomy where a bullet “directly bit” Forrest Gump.

Perhaps that’s too much information. But TMI is precisely the problem when prenatal genetic testing detects a DNA sequence variant, but we don’t know exactly what it means. The fuzzy line between “unusual or uncertain” and “abnormal” in test results can cause great anxiety. This is especially so when “abnormal” before birth doesn’t affect health after, thanks to a characteristic of genes termed incomplete penetrance: not everyone with a genotype develops the corresponding phenotype.

A recent article in Genetics in Medicine examines the distress of a sample of women receiving “abnormal” fetal test results. Lead investigator Barbara Bernhardt, MS, a genetic counselor and co-director of the Penn Center for the Integration of Genetic Healthcare Technologies, reports that some of the participants called the test results “toxic knowledge.”

The Alden March Bioethics Institute offers a Master of Science in Bioethics, a Doctorate of Professional Studies in Bioethics, and Graduate Certificates in Clinical Ethics and Clinical Ethics Consultation. For more information on AMBI's online graduate programs, please visit our website.

On July 11, Wills Eye Institute ophthalmologist Carl Regillo delicately placed 100,000 cells beneath the retina of 52-year-old Maurie Hill’s left eye. She was rapidly losing her vision due to Stargardt disease, an inherited macular dystrophy similar to the much more common dry age-related macular degeneration (AMD).

Maurie’s disease was far along, the normally lush forests of photoreceptor cells in the central macula area severely depleted, especially the cones that provide color vision. Would the introduced cells nestle among the ragged remnants of her retinal pigment epithelium (RPE) and take over, restoring the strangled energy supply to her remaining photoreceptors? They should, for the cells placed in Maurie’s eye weren’t ordinary cells. They were derived from human embryonic stem cells (hESCs).

I’ve waited 15 years to see human embryonic stem cells, or their “daughter” cells, make their way through clinical trials. And thanks to Maurie’s sharing her story, I’m witnessing translational medicine.

The Alden March Bioethics Institute offers a Master of Science in Bioethics, a Doctorate of Professional Studies in Bioethics, and Graduate Certificates in Clinical Ethics and Clinical Ethics Consultation. For more information on AMBI's online graduate programs, please visit our website.

On Sunday morning, July 21, I faced a room of people from families with Leber congenital amaurosis (LCA), an inherited blindness caused by mutations in any of at least 18 genes. It was the final session of the Foundation for Retinal Research’s bi-annual LCA family conference, and I was there to discuss the history of gene therapy. But I zapped through that quickly, because the future is much more intriguing.

The excitement pervading the room that day was palpable, following a day of scientific updates, and not only because those with young children were soon to visit Sesame World and the sights of Philadelphia.

Exome sequencing identified the rare mutation that causes Gavin Stevens’ hereditary blindness (Leber congenital amaurosis, or LCA). (Photo: Jennifer Stevens)

The Alden March Bioethics Institute offers a Master of Science in Bioethics, a Doctorate of Professional Studies in Bioethics, and Graduate Certificates in Clinical Ethics and Clinical Ethics Consultation. For more information on AMBI's online graduate programs, please visit our website.

My mother-in-law’s arms look like she’s been in a fight. The bruises don’t hurt, but they’re embarrassing. They’re likely due to the drug Plavix, a trade-off for preventing clots. But we don’t know if the drug is actually helping, because she started it before the FDA urged physicians to use a pharmacogenetic (PGx) test to distinguish patients likely to respond to the drug from “poor metabolizers,” who won’t. And no one’s thought to test her since.

The original Plavix genetic test identified mutations in the CYP2C19 gene. More recent versions assess seven other genetic variants that affect metabolism of the drug. On June 29, the University of Florida Academic Health Center announced that it would use the wider genetic test to screen all cardiac catheterization patients for response to Plavix. And in the future, they’ll check additional DNA variants in the samples. According to the press release from the university, “researchers … will collect results for the other 249 gene variations to continue investigating which ones might be clinically actionable and become the basis for additional PGx tests for other treatments such as warfarin and statins.”

The Alden March Bioethics Institute offers graduate online masters in bioethics programs. For more information on the AMBI master of bioethics online program, please visit the AMBI site.

It was bound to happen. Last week, Nature reported that a Hungarian company “certified” that a member of parliament did not haveJewish or Roma heritage. It seems we have not come very far at all from the hatreds and behaviors that led to the Nazi atrocities of the 1930s and 1940s. But, of course, 70 years is the merest blip compared to 10,000 or more years of fear of the other.

Is this a problem of science as such? Or is it a problem related to what it means to be a human being, that notorious “riddle, wrapped in a mystery, inside an enigma”? Or is this virulent distortion of scientific progress merely what can be expected when the fruits of scientific research are placed in human hands? Modern science was born, asserts Hannah Arendt in her essay The Concept of History, when attention shifted from the search after the “what” to the investigation of “how”. Historically, science was concerned with exploring the natural world. Scientists such as Aristotle categorized, catalogued, and examined phenomena. The overall goal was to improve understanding of man’s place in creation. Investigation of the “how” was activity of an entirely different sort. Now scientists began to pull things apart in attempts to understand how things work.

The Alden March Bioethics Institute offers graduate online masters in bioethics programs. For more information on the AMBI master of bioethics online program, please visit the AMBI site.

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Dr. Robert Klitzman is the author of the recently released “Am I My Genes: Confronting Fate and Family Secrets in the Age of Genetic Testing”, published by Oxford University Press. He is Professor of Clinical Psychiatry and the Director of the Masters of Bioethics Program at Columbia University. Dr. Klitzman co-founded and for five years co-directed the Columbia University Center for Bioethics, and is the Director of the Ethics and Policy Core of the HIV Center.

In our wide-ranging interview, Dr. Klitzman discusses

• The impact of genetic testing on patients with Huntington’s disease, breast cancer and ovarian cancer, and alpha-1 antitrypsin deficiency
• The implications of recent genetic breakthroughs for these people and their families
• Ethical issues involved in genetic testing, including disclosing results to family and friends, disclosing results to employers and insurers, whether to have children, whether to screen embryos, and privacy concerns
• How to confront fatalism, anxiety, and despair
• How to prepare, ethically and personally, for the likelihood of readily available genetic testing in the near future

Dr. Klitzman also discusses his previous book, When Doctors Become Patients, published by Oxford University Press.

The Alden March Bioethics Institute offers graduate online masters in bioethics programs. For more information on the AMBI master of bioethics online program, please visit the AMBI site.

April 2012 brought news of the latest shot fired over the bow of genetic inheritance as we know it. Ever since the discovery of the structure of DNA by Watson and Crick in 1953 and the subsequent elucidation of the triplet nature of the genetic code by Marshall Nirenberg and others in the early 1960s, many scientists have fantasized about obtaining mastery over this primordial biomolecule.

An interim pinnacle of achievement in this hopeful process would be to create a DNA-like molecule whose information content would be both heritable and evolvable. Synthetic Genetic Polymers Capable of Heredity and Evolution presents elegant work along this path which may signal a substantive shift in humankind’s ability to manipulate the language of life.

The Alden March Bioethics Institute offers graduate online masters in bioethics programs. For more information on the AMBI master of bioethics online program, please visit the AMBI site.

Hannah Sames, here with her dog Ginger, awaits gene therapy. (photo: Dr. Wendy Josephs)

The pharmaceutical industry rightly calls the stage in drug development between basic research and clinical trials the “Valley of Death.” This is when a potential treatment that’s worked in mice, monkeys, and the like catapults to a phase 1 clinical trial to assess safety. It’s rare.

The Alden March Bioethics Institute offers graduate online masters in bioethics programs. For more information on the AMBI master of bioethics online program, please visit the AMBI site.

In Fasil Tekola Ayele’s native Ethiopia, the people call it “mossy foot.” Medical textbooks call it podoconiosis, non-filarial elephantiasis, or simply “podo.”

The hideously deformed feet of podo result not from mosquito-borne parasitic worms, as does filarial elephantiasis, nor from bacteria, like leprosy. Instead, podo arises from an immune response to microscopic slivers of mineral that penetrate the skin of people walking barefoot on the damp red soil that tops volcanic rock. Podoconiosis means “foot” and “dust” in Greek.

The Alden March Bioethics Institute offers graduate online masters in bioethics programs. For more information on the AMBI master of bioethics online program, please visit the AMBI site.