By Christopher Weaver
All the hype around genetic testing?has?doctors worried they’ve overlooked the most basic — and for now, the most effective — genomic tool at their disposal: A few questions about their patients? families.
As the WSJ reports today, British researchers showed that by systematically collecting detailed family history from patients, they boosted the number of patients at high risk for heart disease detected by standard assessment tools from 12% to 18%. Catching more high-risk patients would mean doctors could better steer preventive care that could avert heart attacks.
“In the genomic revolution, we?ve forgotten basic family history as a tool,” says Donna Arnett, a genetic epidemiologist at the University of Alabama at Birmingham and the president-elect of the American Heart Association. “I practice genetic epidemiology and look for genetic markers, but by far, the most important thing we can do in the prevention of heart disease is to identify family history,” says Arnett, who was not involved in the latest research.
The study, published today in the Annals of Internal Medicine, pushed patients to fill out detailed questionnaires — which asked, for instance, the age relatives suffered heart disease — and went far beyond the checked boxes most patients would recognize from doctors? waiting-room forms.
Other research has verified that certain types of family history, such as a parent who had a heart attack before reaching age 60, increases a patient?s heart disease risk by as much as 50%. Probability remains the best tool most doctors have to work with.
“Genetics was supposed to solve all that,” says Alfred Berg, professor of family medicine at the University of Washington. “You were supposed to do a test, and be able to say, ‘I know for sure’” whether a patient will have a heart attack, he says.
Yet, routine family history collect continues to show “at least as much promise as all this high-tech testing,” adds Berg, who until last year chaired a U.S. Centers for Disease Control and Prevention panel that examined genomic-testing products.
Of eight genetic tests developed in recent years by seven companies, none is so far backed by sufficient evidence that it can accurately predict heart disease, according to a recommendation on the latest heart disease screening technologies issued in late 2010 by the independent CDC panel. (The same is true for most of the diseases and testing products the group has analyzed.)
That high-tech genetics has so far been disappointing in the exam room is in part what?s inspiring researchers to revisit family history — a tool researchers already know works well.
The current research “began with the premise that there?s been a great hike in genetic testing,” says Nadeem Qureshi, the lead author of the NEW? study and a University of Nottingham researcher specializing in applied genetics. “But, family history is a great proxy for both genetics and environment, and it?s not being used in clinical practice.”
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Doctors Revive the Simplest Genetic Test
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