December 17th, 2009
Most things in life are ultimately personal. Certain unnamed authors, for example, can launch a new blog with grand ambitions, only to have personal holiday and family matters divert their attention for a few weeks (ahem…sorry about that!). “Personal” often trumps public, beats out ambitious, and generally jumps first in line before many other factors in our lives.
That’s also true in the real world aspects of genetic and genomics. When someone thinks about understanding their genetic code, lots of factors come into play, many of them deeply personal. But in official circles, such personal issues often get relatively little attention. For the genomic era to take off, that needs to change.
That idea may sound counterintuitive. Since everyone’s DNA ultimately so individual, how can personal aspects of testing and genome analysis gotten short shrift? The answer is summed up by four letters – “ELSI.”
ELSI (short for Ethical, Legal, and Social Issues) has long been the standard way that experts refer to the non-scientific, non-medical aspects of genetics and genomics. Here are some examples:
Don’t get us wrong — ELSI is incredibly important. But it’s also insufficient. There’s lots of powerful personal ground that ELSI doesn’t cover. Your genetic information ultimately says a lot about, well, you. That goes beyond ethics, the law, or society, to your personal relationships and even your own sense of identity.
In the last couple of years, for example, three female acquaintances have undergone genetic testing and learned some important things. One discovered that she carries a genetic variant for Tay-Sachs, which doesn’t affect her health but might that of any children she might have, if the father carried the variant as well. Another learned she carries a risk variant for Alzheimer’s disease called ApoE4. The third found out she carries a variant of a gene called BRCA related to increased breast cancer risk.
While each of these women faces a different genetic issue, and don’t know each other, they have one thing in common. Each confided that they hadn’t told their boyfriend or husband about their genetic results. Why? They were afraid their significant other would leave them. That may sound odd, but it’s a more common concern than you might think. Take the recent study that found female cancer patients are six times more likely to be left by their husbands than are male patients during the course of their illness, and you’ll understand why some women’s first instinct is to keep their genetic news to themselves. As a result, information that is supposed to be empowering can be frightening and isolating. And that’s a Personal issue.
Then there’s James Watson. He may be a granddaddy of DNA discovery, but when it came to having his full genome sequenced, he chose not to reveal or see his ApoE results. Why? His grandmother had late-onset Alzheimer’s disease, the form of the disease linked to ApoE4. Since relatively little can be done to prevent Alzheimer’s right now, Watson doesn’t want to know if he has an elevated risk of sharing her fate. As he has stated eloquently on several occasions, he’d rather imagine himself sailing gracefully through old age. He didn’t want his vision of himself or his future altered. That’s also a Personal decision.
If you are an individual considering a genetic test, it’s relatively easy to acknowledge the Personal factor with a few questions:
After that list, is this really easier for individuals? Yes. The parties who will really struggle with the personal aspects of the genomic world are all the organizations racing to be part of this new era. As any genetic counselor can tell you, it’s one thing to analyze someone’s DNA, and another thing entirely to deliver the news about what it says.
Organizations can’t be expected to have all the answers (“Free spousal sensitivity training provided with every genome sequence!”), but they at least need to start getting ready to address the questions that will arise. If you can serve up someone’s genetic profile, you also better have something to say when they call you and ask “Will you be there for me if my kids disown me?” If not, the silence will keep new genetic and genomic technologies on the sidelines. As we’ve said previously, if worries loom larger than the potential benefits, people won’t want to know.
Just adding a “P” to the ELSI acronym (PELSI? ELSIP?) won’t do the trick. In an upcoming post, we’ll talk more about what organizations and caregivers can do to make this new world more prepared to deal with Personal.
"As you read these pages, I hope you will be inspired to explore how you might use genetic information to improve your own health."
- Catherine Wicklund, MS, CGC
President, National Society of Genetic Counselors, 2007
from her foreword to The Genome Book
April Lynch is an author whose work focuses on health and genetics. As an award-winning journalist, she directed coverage of science, health, and medicine for The San Jose Mercury News, Silicon Valley's leading newspaper. She has also written for a variety of other organizations, including leading university textbook publisher Pearson Education and genomics firm Navigenics. Her work on the book and this blog reflects her views, and not those of any employer or organization.
Vickie Venne, MS, CGC, is celebrating 30 years as a genetic counselor. She worked in prenatal, pediatric, and laboratory settings before joining the Hunstman Cancer Institute at the University of Utah. In addition to caring for patients, she has taught for the California Department of Education and the University of Utah's graduate program in genetic counseling. She has also served as president of the National Society of Genetic Counselors and the local affiliate of the Susan G. Komen Breast Cancer Foundation. Her work on the book and this blog reflects her views, and not those of any employer or organization.