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.

In 2004, the U.S. Surgeon General declared Thanksgiving as Family History Day. What better time to learn about the health history of your family than when so many members are gathered?  

We tend to think of genetics as high tech (and often expensive), but a family health history is a simple, low-cost activity that could become one of the most powerful tools in your personalized medicine tool box.

Now in its fifth year, this government website is considering some exiting additions that may make its digital family history tools even more useful.

Go to https://familyhistory.hhs.gov and explore the site. In less than 5 minutes, you can outline most of your first and second degree relatives and enter your own health information. Then you can share the saved files with extended family members to complete information about themselves. 

 Before you start asking personal health questions of family members, be prepared to explain why. Throughout The Genome Book, we review the inherited components of many conditions, some of which may run in your family. And know that not everyone will want to respond when everyone is sitting around the table; some may prefer to talk later by phone or email. A few may not even want to respond at all, feeling this is information best shared only with a physician. As more family information becomes available, the ‘hold outs’ may realize their health status may be essential and they may better understand the need to share – or it may not have been relevant.

 Also, select your timing. “Uncle Charlie, please pass the potatoes, oh – and how was your colonoscopy?” could stop your effort in its tracks. However, by letting family members know you want to start this as a new family tradition, they may come more prepared to share.  The health history can be collected this year and quickly updated every Thanksgiving when the family gathers.

 As a genetic counselor in practice for thirty years, I figure that I’ve helped more than 6,500 people compile or understand their family health histories. While I may not have seen it all, I’ve certainly seen a lot. So if you have any questions, please let me know by sending an email to the address on our blog’s home page or posting a comment.

Kansas gives its residents some protections against genetic information being used in insurance decisions, but it looks like these laws leave lots of holes, especially when it comes to life insurance.

The state covers the use of genetic information with one fairly concise law, Statute 40-2259. This section of the Kansas insurance code covers health insurers and healthcare providers quite thoroughly. These organizations may not:

• Require or request a genetic test.
• Ask a person if they or a relative has undergone genetic testing.
• Make the providing of care or insurance dependent whether a person or relative has undergone a genetic test.
• Use the fact that a person has undergone a genetic test, or the results of a genetic test, to set rates.

But when the Kansas statute gets to long-term care, disability, and life coverage, it gets weaker:

• These types insurance providers are not barred from requiring or requesting a genetic test or asking applicants and policyholders about whether they’ve undergone such testing.
• In long-term care and disability coverage, insurance providers can’t make the provision of insurance conditional on whether a person or relative has undergone a genetic testing.  But when it comes to life insurance, it appears that they can.
• The requirements around using genetic information to set insurance rates are a little squishy. In one section, the law states that long-term care and disability providers may not use the fact that a person has undergone a genetic test, or the results of a genetic test, to set rates. Life insurers, however, are exempt from this prohibition. And in the very next paragraph, the law states that rates for these types of insurance may be “reasonably related” to the risk involved.

What’s the bottom line? It looks like Kansas residents have a few limited legal protections against the use of genetic-related information in long-term care and disability insurance. There appear to be few, if any, restrictions against the use of genetic-related information in the area of life insurance.

We’re not legal analysts or attorneys, so if you have detailed questions about Kansas or laws in any other state, please check with a local genetics professional, such as a genetic counselor or lawyer who specializes in this area.

Laws regarding the use of genetic information in life, disability, and long-term care insurance are different in every state, and can be confusing, even to experts. California, for example, appears to offer protections in life and disability insurance, but appears to have let its long-term care safeguards expire last year.

If there’s a state you’d like to know more about, you can look at a state-by-state overview provided by the National Conference of State Legislatures. Their list, however, was last updated in early 2008 and is no longer accurate in some cases.

In our book, we discuss general privacy laws and concerns in Chapter 8. You can also let us know here if you are interested in a specific state, and we’ll try to move it up to the top of our research list.

In one, gene sequencing firm Complete Genomics announced that it had sequenced a whole human genome for $1,700 — a significant turn in the race to deliver an affordable, high-quality readout of a person’s entire DNA sequence.

In the other, members of a family known to carry a hereditary form of colon cancer discuss getting a genetic test — and some say they’d rather not know. “If it came back positive,” said one, “I think I would feel like it would be some kind of countdown.’’

People in the genetics world know that genetic information can provide valuable health insights now, and that many more will be found. To them, the idea of a full genome analysis is fascinating.

But out there in non-genetics land, others aren’t so sure. Many people continue to believe that DNA determines one’s fate, despite all the evidence to the contrary. For most of us, genetics is only one of several important factor in our health. But in the realm of ideas, the messages of Gattaca still hold sway.

That dictomy is what makes genetics so fascinating, and so difficult to bring to everyday life. The prospect of personal genetic knowledge hits people at a deeply personal, emotional level, raising issues of identity, free will, and one’s hopes for the future. Many people aren’t sure they want to throw a DNA readout into that mix.

In an excellent commentary last week, Hank Greely, an expert in the legal and social issues surrounding genetics,  pointed out all the ways that we’re not ready to handle genetic knowledge. I’d take it one step further — I’m not sure many people are ready even to discover their genetic makeup, let alone figure out how to handle the information once they have it.

When the low-cost genome race is won, it won’t ultimately be genomes that are sequenced, but people. Without more accounting for the human factor, that fact may leave those in the sequencing competition wondering where to go after they’ve crossed the finish line.

Some answers to this dilemma are out there, in the communities of people who’ve already made important decisions based on genetic information. We’ll talk more about some of those solutions in upcoming posts.

So the Genetic Information Nondiscrimination Act guards against most forms of genetic discrimination when it comes to your job or health insurance. But there were some other types of insurance that GINA didn’t touch – life, disability, and long-term care.

Regulating how personal genetic information is used in those areas is left up to the states. And trying to track what each state is doing is like herding those proverbial cats. State legislatures are usually considering multiple laws at once, and it can be hard to tell how a state’s laws regarding genetic discrimination may have changed.

The National Conference of State Legislatures made a valiant attempt to summarize each state’s position, and their online genetic laws list is the one that most people seek out. But it was last updated in early 2008 – an eternity in the genetics world.

And when it comes to California, it looks like things have definitely changed.

The NCSL list states that California “restricts discrimination based on genetic information” in all three areas of insurance – life, disability, and long-term care. That assertion still holds true when it comes to life and disability coverage.

But the long-term care protections mentioned by NCSL, which prevented long-term care providers from requiring genetic tests, were set to expire in early 2008.  (You can see the old version of the state insurance code by clicking here and scrolling down to Section 10233.1) There’d been some talk about maintaining them – and none of it apparently went anywhere.

I checked recently, just out of curiousity, and found that the earlier section of legal code (10233.1) had been deleted from California’s lawbooks entirely . There are new or revised sections of the life and disability insurance code covering discriminatory practices and underwriting on the basis of genetic testing. The revised long-term care section now doesn’t appear to discuss genetic issues (if reading insurance code is your idea of good times, click here and scroll down to Part 2, Chapter 2.6).

We’re certainly not lawyers, and if anyone knows more information, please let us know. We discuss the basics of genetic privacy and policy in Chapter 8 of our book.

But from the looks of these changes, Californians no longer appear to have previous genetic protections in the area of long-term care coverage. The old law didn’t guard against all forms of genetic bias when it came to long-term care. Still, it’s disappointing that in the same year that GINA succeeded at the national level, California took a step backward.

And just to be clear, we’re not trying to pick on NCSL. Keeping their list up to date would be a full time job. When I can, I’ll look at other states from time to time to see what’s changed.

Any woman who’s considered having children knows that age isn’t on her side. Growing older not only makes it harder to have a baby, but also raises the risk that a baby might be born with a genetic disorder. Now, as it turns out, it’s becoming more clear that a father’s age matters as well.

Researchers have been trying to discover why older fathers, usually men in their 50s or above, are more likely to have children with certain genetic disorders. Now, a team of researchers have found a possible reason — a link between a type of benign testicular tumor and the genes of children born to men with such tumors.

In their findings, published in a recent edition of Nature Genetics, the researchers point to a connection between these tumors and certain rare disorders in children.  The researchers also propose that these tumors might be connected to more common disorders in children as well. This type of testicular tumor becomes more common as men age, and might play a role in shaping a child’s genetic predispositions for a number of different conditions, including some that don’t arise until later in life.  (The Nature Genetics piece is heavy on numbers and short on context — you can also find a more reader-friendly article here.)

As we discuss in Chapter 3 of our book, a number of prenatal genetic tests are now available for older expectant mothers. Dads can undergo carrier testing, but other types of screening remain a ways off.

Now, as new tools to reveal these differences emerge, the JAMA article encourages researchers and clinicians to rethink screening for breast and prostate cancer.

Breast and prostate cancers now account for 26 percent of cancers in the United States.  However, in the last 20 years, it may be this increase in numbers reflects detection of low-risk growths that may never become dangerously cancerous.

One of the options the JAMA authors present is to focus on developing (and validating) markers that will identify significant from minimal risk cancers. These markers could target either the tissues that may be growing abnormally or the inherited genetic variants that may offer a person protection against these cancers. In Chapter 5 of our book, we discuss the differences between the genetic mutations that are a function of an abnormal cell line on the way to developing cancer, and genetic mutations that are inherited. It could be exciting to use genomics to direct personalized screening.

In this day and age of increasing health care costs, about $20 billion is spent to screen for breast and prostate cancer yearly. As new biomarkers are found and validated, the number of people who need screening or aggressive treatment might be reduced, and with it, the anxiety associated with hearing the word “cancer.”

In the latest online edition of Nature Genetics, researchers at powerhouse genetics center Cold Springs Harbor Laboratory report that they have identified an important mutation that, while rare, significantly increases a person’s risk of developing schizophrenia. (If the Nature Genetics looks like only so much jargon, you can find a more readable overview here instead.)

In schizophrenia genetics, it’s becoming increasingly clear that numbers matter.

This recently-identified mutation comes in the form of a copy number variant — a place on the genome where the number of bases or genes differs from one individual to another. This latest schizophrenia-related mutation sits on chromosome 16, and people who have an extra copy of the relevant region of that chromosome appear to be almost 15 times more likely to develop schizophrenia, according to the study. The study augments previous work on the role of copy number variants in this condition.

In our book, we talk about genetics and a number of different mental health and developmental conditions in Chaper 7, and provide some background on copy number variants in Chapter 9.

Not sure how to pronounce “mitochondria“? Want to listen to human genome expert (and current NIH director) Francis Collins serve as your own personal talking genetics dictionary, defining concepts such as “personalized medicine“? Federal gene geeks at the National Human Genome Research Institute have unveiled their latest online talking glossary of gene-speak.

It’s interesting to see which terms made the cut — and which didn’t.

You’ll find the essential terms of genetics, such as “base pair” or “X-linked.” Some terms that relate to broader health-related concepts, such as “pharmacogenomics,” are also included. But only a few actual health conditions made the list. You’ll find some rare disorders widely known to be genetic, such as Huntington’s Disease and hemophilia. And there’s a scattering of common health conditions where genetic factors have been fairly well identified, including diabetes and prostate cancer.

Lots of other common conditions were left out. Where, for example, is breast cancer? The glossary does include the BRCA gene variants, but doesn’t include breast cancer itself, even though other BRCA is far from being the only genetic factor involved in breast cancer. Nor does the glossary include colon cancer. The genetics of these conditions are fairly well understood,  both in terms of rarer single-gene factors and more common multi-gene factors. And these diseases affect hundreds of thousands of people. If you are going to help people understand the role that genetics can play in health, these aren’t conditions you want to leave out of a new public education campaign.

If you’ve got other nominations for terms or conditions to include, please weigh in! At the bottom of the glossary index page, you’ll find a link that lets you suggest terms directly to the glossary minders. Or you can post a comment here or email us, and we’ll gather suggestions and submit them.

You’ll find many of the same terms defined in our book. We talk about genetic factors and issues in diabetes in Chapter 4, and a variety of cancers in Chapter 5.

And if you’d rather have your genetic terms defined in silence, NGHRI has a text-based glossary as well.

Gene therapy — the use or manipulation of genes to address disease — doesn’t get much attention in general health news. There were notable failures and problems early on, and since then, efforts have been more low-key.

But every now and then, a new study makes it clear that gene therapy researchers keep trying, and sometimes succeed.

A new study in The Lancet found that in patients with an inherited vision disorder called LCA, gene therapy improved eyesight, especially in children. (Tip for all non-nerds: If you find the study in The Lancet a bit too heavy on medical and genetic jargon, you can find a more readable overview here.)

The usual cautions apply here. LCA is a rare condition. This study was small and early-stage, involving only 12 patients. More research is required.

But it’s also an indication of how gene therapy is likely to proceed. Innovations will emerge gradually, one condition at a time, but they will come. As The Lancet notes, one upcoming challenge will be getting patients genotyped (having their genetic makeup analyzed) so that it’s easier to know who might benefit. In our book, we have more background on gene therapy in Chapter 9. In our next edition, we’d like to include more information on vision disorders, as many common ones have a strong genetic component.