Integrating Genomics into Doctor Visits
Three attempts to make genomics an integral part of medicine.
Walk into your primary care physician’s office with the
results of a genetic test, and you’re likely to be met with confusion, apprehension
or even disdain. Most doctors aren’t equipped to deal with even the simplest
genetics test, and they are highly unlikely to order them. But as the number of
genetic tests grows, thanks largely to the availability of cheap DNA
sequencing, a few pioneering physicians, scientists and entrepreneurs are trying
to change that, looking for better ways to integrate genetics into routine
medical practice.
These efforts are challenging, limited, and in some cases,
controversial. Despite the growing number of disease-linked genes identified to
date, little is known about how variations in these genes affect individuals,
especially in combination with other genetic variations and environmental
factors. A deep tension exists between those who want to move forward quickly,
incorporating genetic testing into clinical practice as much as possible, and
those who want to hold back until there is better evidence that this
information can truly help individuals make better choices about their medical
care and improve their overall health.
Speakers at the Consumer Genomics Conference in
Boston last week outlined three very different attempts to integrate genomics
in routine care. Steven Murphy, who
writes “The Gene Sherpa” blog, runs a medical practice, called the Personalized
Medicine Group, with about 3,000 patients in the New York City area. Physicians
there perform what Murphy calls personalized risk assessment, incorporating family
history and genetic testing, such as pharmacogenomic testing, preconception
testing, and screens for risk of hereditary cancers and other disorders.
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Murphy illustrated just how difficult it is to bring genomic
testing into primary care, and how limited the testing is, with a case study
from his practice: testing revealed that
a 39 year old woman with incredibly low good cholesterol (high density lipoprotein
or HDL) and a family history of heart disease had a variant in a gene that had
previously been linked to heart disease. But the effect of her particular
variant is not yet known. (A single gene can have hundreds of different
variants, some harmless.) “I spent six
to seven hours on the analysis to try to figure out what to do,” said Murphy.
“And all of that is unpaid.”
Murphy operates out of the well-heeled New York suburb of Greenwich,
CT, so his clientele certainly aren’t typical. (New York, after all, is the
home to boutique or concierge medicine, where patients pay large fees for
highly personalized care.) Insurance companies are unlikely to cover many of
the genetic tests he uses, and most patients would be unable to pay the
thousands of dollars such tests can cost out of pocket. El Camino Hospital, a public
hospital in the heart of Silicon Valley, aims to incorporate genetic testing
into medical care in a less rarefied atmosphere. The hospital created the Genomic
Medicine Institute about a year ago to help physicians and patients access
and understand genetic testing. The institute has worked with DNA Direct, a
genetic testing company recently acquired by Medco, to create a web portal with
information on testing for both doctors and patients. The institute also
facilitates both ordering and insurance billing and has developed educational
courses for physicians. According to Paul Billings, the institute’s chief science
officer, uptake by hospital physicians has been “incredibly uneven.” Some
surgeons have adopted it wholeheartedly, sending patients with cancer concerns
for testing, while most internists and primary care physicians have not.
Brandon
Colby aims to broaden the genomics testing market much further. Colby is a
physician and founder of Existence
Genetics, a startup based in Los Angeles that is developing a specialized
genetic testing chip along with software to help doctors translate results from
the test into personalized advice for patients. (Colby also serves as medical
director of a private medical practice in Los Angeles that takes a similar approach.)
The chip detects a number of disease-linked variations, including those linked
to both rare and more common disorders. Specialized algorithms then convert
this information into risk predictions, as well as recommendations for
prevention strategies and the treatments most likely to work in that
individual.
But some say this type of analysis is premature; it’s not
yet clear how different mutations or environmental factors interact to create
risk for a disease, or how well specific interventions will work in genetically-defined
individuals. For example, during his talk at the conference, Colby described
the case of a young girl found to have an increased risk of breast cancer
thanks to a mutation in one of her DNA repair genes. She might want to avoid
radiation, such as that from X-rays and CT scans, which could harm her DNA. But
Robert Green,
a neurologist at Boston University who studies genetic testing, points out that
its unclear if this type of testing and the resulting recommendations will
truly result in decreased risk of cancer, or whether it might increase her risk
of dying from something like pneumonia, if she avoided a chest x-ray that might
have diagnosed the disease.
The tension between implementing genetic testing and not was a
common thread at the conference. Given that it will be impossible to rigorously
test all the combinations of genetic variations, treatments, and other factors,
it’s an issue that will be difficult to resolve.