Angelina Jolie made headlines earlier this year for undergoing a preventative double mastectomy after learning she tested positive for the BRCA1 gene, a mutation that indicates a high risk for breast cancer. Tests like the one Jolie took, which predict one’s risk factor for genetic issues, are an option for those who want to get a head start on warding off disease. But if they inspire trepidation in the patient, are they worth the headache?
“Medical treatments have been demonstrated to work on a large population, but we’ve known all along there’s a huge variation among people,” says Dr. Robert C. Green of Brigham and Women’s Hospital and Harvard Medical School’s Division of Genetics and Department of Medicine. Green is a regular member of the National Human Genome Research Institute study section on Ethical, Legal and Social Issues and Human Genetics.
“Genome sequencing is pulling the curtain back and tailoring treatment to the individual. In the near term, determining mutations such as those that cause Huntington’s is definite," he says. "Genetic markers also help target the right medication because severe side effects can be predicted pretty accurately.”
Green says personalizing medicine means greater efficiency in prevention and treatment; however, a lot of snake oil is being peddled in the form of clinical direct-to-consumer tests.
“We already have companies selling products that are highly suspect,” he says. “But the bottom-feeders lack any real science. They make ridiculous claims. You need to use good judgement. If it sounds like pseudo-science, then it probably is."
Here are two professional tests already in use, and one that shows promise for the future.
For heart disease
The CardioION test is a mail-order blood and urine test that takes a comprehensive evaluation of the individual’s nutritional status, regardless of cardio-vascular risk factors. “The best candidate for the CardioION test is the individual who wants to know far more beyond simple cholesterol level, someone with family history of premature heart attack or stroke before age 60,” says Manhattan-based integrative medicine specialist Dr. Elena Klimenko.
“Also, someone who eats well and exercises, but wants to take extra steps towards optimal health and prevention of chronic illnesses with proper vitamins and nutrients supplementation. This test clearly helps us to identify nutritional deficiencies and prescribe vitamins body needs to lower the risk of cardiovascular disease.”
For response to IVF
Univfy is an online questionnaire that determines a woman's chances of successful IVF treatment via a personal profile (age, BMI, reproductive history, blood test results, and male partner's age and, optionally, his sperm count, etc. For women using sperm donors, or same sex-couples, only information about the female partner being treated is necessary.) Two types of the test are available: one for women under 43 who have not tried IVF before, and one for women under 45 who have had failure or success with IVF (as a woman’s reproductive health profile can change over time). It’s not meant for cancer patients who are trying to preserve their fertility via IVF.
“Fertility is a probability game, but each patient's probability of success is different, and it is impacted by her reproductive health profile,” says Dr. Mylene Yao, CEO and co-founder of Univfy. “IVF can be very expensive. By helping women determine what are their chances of successful IVF, they can make a better choice of whether to continue.”
For ovarian cancer
There is promising research that a test measuring changes in the blood protein CA125, which is a known marker for tumors, could soon be implemented to detect early-stage ovarian cancer. If it’s proven to work, “This would be of tremendous importance to the health of women,” says Dr. Ross Berkowitz, director of Gynecology and Gynecologic Oncology at Brigham and Women’s Hospital. “Ovarian cancer is the leading gynecological cancer cause of mortality.”
The FDA has not yet approved the test, but that could change. Dr. Karen Lu, professor and department chair of Gynecologic Oncology and Reproductive Medicine at the University of Texas MD Anderson Cancer Center, is involved with research efforts for the test, and says that a study underway in the U.K. could yield more information about the protein.
“If this study shows that there are fewer deaths from ovarian cancer in the group of women who were screened, then I would hope that the FDA might consider approval for women in the U.S,” she says. “The study in the United Kingdom will be reported in 2015, which is really only a little more than a year from now.”