Dr. Jameson: Genetic testing can be useful in at least four ways:
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- To make a definitive diagnosis when disease penetrance is high;
- To predict prognosis;
- To allow targeted treatment; and
- To allow genetic counseling.
In the case of rheumatologic disorders, most genetic testing at the present time would involve genetic predisposition (e.g., HLAB27). It seems likely that genetic associations will improve over time. The results will be actionable either because the diagnosis is more definitive and/or there is a specific, targeted treatment for the immune abnormality.
Question: You also write, “Financial incentives for new diagnostic tests are not as strong as those to create new drugs.” Do you foresee a palatable, near-term solution, or is this where the government and policymakers need to intervene?
Dr. Jameson: A likely scenario is the need to couple diagnostic tests and targeted treatments. That is, the targeted treatment will not be indicated without evidence of a specific biomarker. In this case, the pharmaceutical companies will be incentivized to develop these tests. Payers are also likely to require documentation of treatment efficacy to justify continuing to pay for expensive therapies.
Question: What is your biggest concern about technology as a driver of precision medicine?
Dr. Jameson: The challenge of [technology is] keeping up with the knowledge base and developing a set of incentives … that allows patients to benefit from the advances. The benefits of precision medicine will not be realized unless there is reimbursement for testing, targeted treatments and consultations by specialists.
Richard Quinn is a freelance writer in New Jersey.
- Larry JL, Longo DL. Precision medicine—personalized, problematic and promising. N Engl J Med. 2015 Jun 4;372(23):2229–34. doi: 10.1056/NEJMsb1503104