Integrating genomics in your office

DNA Day came and went this past April. On this date in 1953, the work of James Watson and Francis Crick (and, though she doesn’t appear as an author, Rosalind Franklin) describing the structure of DNA was published. The paper, published in Nature, connected a string of dots that stretched back a century, to Gregor Mendel’s work describing the heredity of peas.

That string of dots (or peas, as the case may be) wasn’t always straight; understanding the chemistry behind the genetic code had more than a few dead ends. And it’s clear that the 61-year string of dots leading from the description of DNA to its applications in modern medicine has been similarly circuitous.

But we’re finally at a point where using genetics to better understand who we are as individuals, where we come from and — in some ways — where we are going is no longer science fiction. It’s been well-established that genetics alone is not destiny, but neither are chromosomes some sort of latter-day tea leaves.

As physicians, it’s critical that we understand the basics of what Watson, Crick and Franklin came up with five decades ago. But it’s also crucial that we establish for ourselves a new role as students of the tsunami of clinical uses of genetics information and teachers for our patients. Consumers will increasingly have access to genetic information, be it health- or ancestry-related. Sometimes that information will come through professional intermediaries. Sometimes it will come directly to the consumer.

A new survey by the personal genetics company 23andMe shows that education of consumers has been pretty successful. Nearly everyone — 91% of respondents — know that genetics can be used to manage health. More than 80% understand that genetics can predict the risk of some diseases. And two-in-three acknowledge that ancestry can be better understood through genetics.

That’s the good news, especially in an era where 26% of folks think the sun orbits the earth. But we have some work to do. Sex chromosomes confuse our patients: 24% of men and 49% of women get their sex chromosomes mixed up. I’m sure there’s a joke in there for a late-night comedian.

But it also means that we, as clinicians, could be building on that already-strong foundation. I’m not suggesting that we reserve a part of each office visit to discussing the finer points of meiosis, but — just as a cardiologist doesn’t need to diagram the endothelial system to help a patient to use the automatic cuff at the supermarket pharmacy — we can certainly work to ensure that knowledge of genomics keeps moving forward for both ourselves and our patients.  The simple inexpensive tool of taking a detailed 3-generation family history is an area that needs improvement.  And understanding the benefits and limitations of genotyping, an exercise that almost a million of our patients have done, can improve our patient care.

We’ve come a long way in 61 years. Imagine where we could be by 62.

Katherine Sutherland is medical director, Genomics Medical Institute, El Camino Hospital, Mountain View, CA.

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