Genetic testing is maturing, but for consumers it's the buyer beware

It is becoming more and more common for patients to choose genetic tests that evaluate the risk of diseases such as bad cancer, Parkinson's disease, diabetes and other diseases, especially those that are important. there is a family history. Yet, because some of the tests focus on wellness rather than on specific disease diagnoses, the insurance may be limited. Doctors and other experts say that one should be wary of the buyer.

The actress Angelina Jolie became a child of preventive medicine through genetic testing after opting to test a BRCA1 gene mutation. Jolie, whose mother died of ovarian cancer at the age of 56, chose to undergo a double mastectomy followed by a removal of the ovaries and fallopian tubes. when it has been tested positive for the mutation of the BRCA1 gene. Prenatal genetic testing has also become increasingly common, especially for Down syndrome, cystic fibrosis and other chromosomal abnormalities.

Although genetic testing is currently limited and variable, some genetic tests like galactosemia, phenylketonuria and severe combined immunodeficiency. The Centers for Medicare & Medicaid Services recently increased coverage to include genetic diagnostic laboratory tests for patients with advanced cancer, citing the utility of these tests to help oncologists make more informed treatment decisions .

Dramatic fall in the price of genomic sequencing, explosion of the number of companies introducing new genetic tests and increasing consumer comfort with the concept. The price of complete sequencing of the human genome has dropped from $ 2.7 billion in 2003 to about 100 today.

"There are now more than 75,000 genetic tests – more than 10 new tests coming on the market every day – bad news," said Kathryn Phillips, professor of economic health and health services research at the University of California at San Francisco and lead author of a study on the growth of genetic tests that was published in Health Affairs.

The Costs of Testing Depending on the type of test and the complexity, the market for genetic testing has many advantages and disadvantages, according to Phillips. Although many ideas that new tests might be beneficial to patients, "it's becoming very difficult for consumers, patients, and providers to sort through. She said the global market for genetic testing is expected to exceed $ 22 billion by 2024, according to market research firm Global Market Insights.