Genomics business value, cost-effectiveness unclear

Despite advances in genomic medicine and the rise in personal genetic testing, the business value of the practice and its cost-effectiveness remain unclear--ultimately posing as barriers to widespread adoption--according to a study published this week in the journal Personalized Medicine.

The researchers write that the medical community must come to some understanding of when genetic/genomic testing is justified--and improve methods for securing reimbursement.

"Absent substantive revision in the payment schemes for genomic medicine, the medical science of deploying this form of diagnostic testing will move far ahead of our health system's ability to recognize its direct economic value," the authors write. "[I]t will prove impossible to sustain the current levels of investment in ongoing clinical research to establish its value, and in the physician training and education required to deploy it effectively in patient care."

They researchers remain hopeful that the economic viability of genomic medicine can be established within the next five years, but say that it will be difficult. New research from the Harvard School of Public Health illustrates just how difficult.

A study, published recently in the American Journal of Human Genetics, looked at how difficult it is to use genetic information to make meaningful predictions about risk for breast cancer, type 2 diabetes and rheumatoid arthritis. They found that knowing genetic variations and including possible interplay between them and the environment would lead to--at most--a 1 to 3 percent increase in risk prediction, the Boston Globe reports.

The authors say that DNA as destiny is an oversimplified view, though they add personalized medicine is coming and it will be revolutionary. Still, it's not here yet and its promise may be exaggerated in some areas.

Despite its promise to initiate appropriate preventative care, genome sequencing also holds the potential for over-treatment, Michael Watson, executive director of the American College of Medical Genetics and Genomics, recently noted. Unique genetic variations might raise concerns, but produce no disease, creating anxiety in patients unnecessarily.

Regardless, the market for genetic testing is soaring, with spending expected to quintuple to $25 billion by 2021.

To learn more:
- read the Medscape Medical News article
- here's the American Journal of Human Genetics abstract
- check out the Boston Globe article

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