Today is both DNA Day and World Malaria Day. As I was pondering how to connect the topics, e-mail arrived from my “son,” a medical student in Liberia. He had malaria, again, and this time it had gone to his brain.

I “met” Emmanuel in 2007, when he e-mailed me after finding my contact info at the end of my human genetics textbook, which he was using in his senior year of high school. He is my personal link between DNA Day and World Malaria Day. But the dual commemoration also reminds me of the classic study that revealed, for the first time, how hidden genes can protect us – that carriers of sickle cell disease do not get severe malaria.

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.

Several scholars claim that hyping different biotechnologies will lead to a loss of public trust which in turn will result in a loss of support for science. This has been discussed in the context of genomics research, gene therapy, stem cell research, biobanking, neuroimaging research, and nanotechnology. The problem most articulate is that hype in terms of promising medical benefits to the public will generate an expectation by the public and when such expectations are unmet, the public’s support for science will wane. Certainly there is social science evidence to support that (a) hype over many biotechnologies is present in the popular media and (b) several actors are involved in hyping science including scientists, media, politicians, and others. And while the idea that hype and unmet expectations could result in a loss of public trust and support for science seems logical and to some degree intuitive, I think the reality is that the relationship between hype, public trust, and the loss of support for science is quite complex. It is also complicated to measure empirically and to date, there is no study I have come across that demonstrates this relationship. In fact, the one study evaluating the public and donor’s perceptions on hype and stem cell research actually shows that people “aren’t taken in by media hype.”

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.

You have your genome or exome (the protein-encoding part) sequenced to help diagnose a puzzling set of symptoms, and something totally unrelated, and unexpected, turns up – a so-called “incidental finding.”

Surprises, of course, aren’t new in medicine. The term “incidental finding” comes from “incidentaloma,” coined in 1995 to describe an adrenal tumor found on a scan looking for something else. I had one — a CT scan of my appendix revealed a polycystic liver. A friend had it much worse. She volunteered to be a control in an Alzheimer’s imaging trial, and her scan revealed two brain aneurysms!

Geneticists have long expected an avalanche of incidental findings from clinical (exome or genome) sequencing. Researchers from Baylor College of Medicine and NHGRI and elsewhere described several cases at the American Society of Human Genetics annual meeting last fall. My favorites:

- A boy had his genome sequenced as part of a project to better diagnose syndromes of developmental delay, intellectual disability, and seizures. Researchers found the aorta weakening of Marfan syndrome, gave the boy a repurposed drug in clinical trials, and he’s ok.

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.

Anonymity has always been an important component of protecting the privacy of human participants in research and other activities including biobanking. In his January 21, 2013 post to this blog, my colleague Zubin Master asked the question “could it be possible to identify people who have participated in biobanking projects?”  We did not have to wait very long for an answer. It turns out that the January 18, 2013 issue of Science was already on my desk.  In a study in that issue, Melissa Gyrmek and colleagues in a group led by Yaniv Ehlich describe how they used a published genetic sequence as well as accompanying metadata and freely accessible genealogy websites to identify the sequence’s owner. This was big enough news to merit a news article and a policy forum examining the ethical implications all in one issue.

A previous study (Science, September 5, 2008 p1278) had allowed donor identification from a blood sample through analysis of single nucleotide polymorphisms by sequencing a blood sample. This new study is the first to use simply a published sequence.

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.

Biobanking involves the collection and long-term storage of biological material (e.g., cells, DNA, tissue, blood) and health information (medical history, age, weight, diet, lifestyle). Biobanking permits the examination of genetic and other biological markers on thousands of samples at a time in a given population. Thus, there has been a tremendous amount of interest by scientists, clinicians, and even bioethicists on biobanking. It has been touted as the next frontier expanding on the work done with genomics and proteomics. The value of biobanking research is that although the samples and health information are collected at some point and stored, they can be used for future research when new biomarkers are discovered. Many if not most bioethicists have explained that biobanking risks are pretty low. Risks surrounding privacy can be protected so long as proper measures are in place. As sample collection involves a blood draw or collecting tissue as part of routine care, there is also low risk of physical harm to participants. Because of the scientific and social value of biobanking and its potential minimal harms to participants, many scholars have explained that a broad or blanket informed consent procedure is suitable. According to biobanking advocates, broad consent (consent to certain broad categories of research i.e., cardiovascular or cancer research) or blanket consent (consent to all research or any medical research) is both ethically and legally permissible because re-consenting to each and every future study is resource intensive and burdensome, and there is little harms to participants and privacy risks can be protected. So what’s the problem?

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.

In 1729, Jonathan Swift of Gulliver’s Travels fame published a satirical essay called "A Modest Proposal." He suggested that a cure for poverty was for poor people to sell their children to rich people as food.

I’m borrowing Swift’s title to bring up another outrageous idea: analyzing forensic DNA databases for a genetic signature of criminality.

Is there a genetic signature for criminality? 
It’s an old and controversial question. (NHGRI)

ADAM LANZA’S DNA

Days after the Newtown shootings of December 14, 2012, headlines trumpeted the state medical examiner’s request of University of Connecticut geneticists to examine mass murderer Adam Lanza’s DNA. What exactly that might entail wasn’t announced, but celebrity docs, geneticists, and bloggers weighed in, nearly all agreeing that (1) violent tendencies are due to complex interactions of many genetic and environmental factors and (2) probing Lanza’s DNA and finding anything even suggestive of causing his crime could lead to stigmatization of individuals who share suspect genome regions with him.

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.

For 15 years, the film GATTACA has been synonymous with “genetic dystopian future,” and has become a mainstay of genetics classrooms. But I’ve found a better film. It’s called, simply, Jim.

I never could quite connect with GATTACA, the dark tale of an assumed genetic identity in a society where the quality of one’s genome dictates everything. Perhaps it was because 1997 was the pre-genome era, when the idea of ordering a DNA test over the Internet was still science fiction. But ironically GATTACA’s “not-too-distant” future, in which a genetically inferior “invalid” impersonates a “valid” to achieve a dream, sets up a too-obvious conflict, with the details and resolution contrived. I know this from years of reading fiction and watching soap operas.

Although Jim, released in late 2010, shares with GATTACA the premise of widespread genetic enhancement, it’s much more subtle and nuanced.

“Jim” is a terrific glimpse of a frightening future
from Jeremy Morris-Burke, a self-taught filmmaker.

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.

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.