The Genome Book

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:

• Ethical considerations reflect values, beliefs, and how they factor in genetic testing. If an expectant couple chooses to undergo prenatal testing, and discovers their developing baby has Down syndrome, the decision whether to terminate or proceed with the pregnancy is driven in part by ethics. Such ethical decisions are weighed by us individually, in our families, and in a culture as a whole.
• Legal implications, such as genetic anti-discrimination laws or privacy regulations, determine whether many of us feel safe understanding our genetic information at all.
• Social considerations, such as whether our society is ready to help people of all backgrounds and incomes have equal access to their genetic information, will shape how genetics and genomics move forward on a broad basis in the years ahead.
• If you want to see a great overview of recent thinking on ELSI, check out a recent series of opinion pieces gathered under the title “What ELSI is New?” by Genomics Law Report.

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:

• Why do you want to know? If you want a test simply because you think it might be interesting or fun, be prepared for the fact that you may find out some fairly serious information.
• What will you discover? Some tests, such as pure genealogy tests, are usually on the lighter side. Genetic results linked to medical conditions aren’t. Some testing companies offer a mix, so find out exactly what you are signing up for, and if you can opt out of viewing any results you don’t want to see.
• Who can help you with your results? Some people are comfortable handling genetic results on their own, but many aren’t. If you are one of the latter, will you have access to a doctor or genetic counselor who can help you understand the information and sort through the emotions that follow? If not, is there someone else in your life who can fill that role?
• How might the information change your view of yourself? Are you prepared to think of yourself as someone who is more likely than average to develop a particular cancer, or Alzheimer’s disease, or Parkinson’s disease? Do you want to factor that kind of information into how you see your future, or who you are?
• How will you use your results? Do you like to read up on prevention or track down the right doctor? Or are those prospects daunting? Will you find the information empowering, or disheartening?
• Who will you tell? With many genetic results, there many be medical reasons to tell your biological relatives, who might share some or all of your particular genetic profile. But just because something is a good idea doesn’t make it easy. And telling relatives and loved ones bound by emotion rather than blood, as evidenced by the cancer study mentioned earlier, isn’t  necessarily any easier sometimes. If you are working with a genetic counselor, she almost certainly has experience navigating family conversations and can help.
• We talk in more detail about these and other personal issues in our book, especially Chapters 2 and 8.

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.

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