It’s becoming more and more common for patients to choose genetic tests that assess risk for diseases such as breast cancer, Alzheimer’s, Parkinson’s, diabetes and other conditions — especially if there's a family history. Yet because some of the tests focus on wellness rather than specific disease diagnoses, insurance can be limited. Doctors and other experts say it’s very much buyer beware.
Actress Angelina Jolie has become a poster child for preventative medicine through genetic testing after opting to test for a mutation of the BRCA1 gene. Jolie, whose mother died of ovarian cancer at age 56, chose to undergo a double mastectomy followed by removal of ovaries and fallopian tubes when she tested positive for the mutation in the BRCA1 gene. Prenatal genetic testing also has become increasingly common, especially for Down syndrome, cystic fibrosis and other chromosomal abnormalities.
While insurance coverage for genetic testing is currently limited and variable, there’s increasing coverage for some genetic tests, such as testing of children for conditions such as galactosemia, phenylketonuria and severe combined immune deficiency. The Centers for Medicare & Medicaid Services also recently increased expanded coverage to include genetic diagnostic laboratory tests for patients with advanced cancer, citing the usefulness of such tests to help oncologists make more informed treatment decisions.
Driving this sea change in personalized medicine has been a dramatic drop in the price of genomic sequencing, an explosion in the number of companies introducing new genetic tests and increasing consumer comfort with the concept. The price of whole human genome sequencing dropped from $2.7 billion in 2003 to about $100 today.
“There are now over 75,000 genetic tests — that comes to over 10 new tests that enter the market every day, which is both good news and bad news,” said Kathryn Phillips, professor of health economic and health services research at the University of California San Francisco and lead author of a study on the growth of genetic testing that was published in Health Affairs.
The costs of these tests has dropped significantly, now typically ranging from under $100 to more than $2,000, depending on the kind of test and complexity.
The explosion of the genetic testing market comes with plenty of pros and cons, said Phillips. While many of the ideas that new tests may well be beneficial to patients, “it gets very confusing for consumers, patients and providers to sort through. It’s really the Wild West right now in terms of how to deal with this tsunami of genetic tests,” she said.
The global genetic testing market is expected to surpass $22 billion by 2024, according to market research consulting firm Global Market Insights.