2013: A Big Year for Genomics, Genetic Testing and Targeted Therapies

2013 was a banner year for raising the visibility of genetic testing. The news varied. It can be argued, however, that all parties (patients, clinicians, industry and researchers) have benefited from the increased coverage. This brief snapshot of the stories about genetic testing that made it into the headlines in 2013 suggests that we are at a critical point. Patient demand, industry innovation and policies are converging. Consumers seem to embrace the technology and the opportunity to take action with the information they may receive. The law is carefully considering how to treat genetic information and the regulatory agencies continue to work toward protecting patients while encouraging innovation.

Genetic Testing

In May of this past year, Angelina Jolie opened our eyes to her difficult decision to go through with a double mastectomy after learning that she, like her mother, is a carrier of BRCA1, a gene that increases her risk of breast and ovarian cancer. This disclosure, although fraught, was good news. It raised the visibility of testing and brought attention to test results and the difficult choices that patients face, once empowered with new information. Angelina Jolie might be an atypical BRCA1 carrier because of her high profile. However, the outpouring of support for her decision to disclose suggests that there are others like Angelina. Other carriers, other caregivers and others hungry for the information she was able to get.

In June 2013, the Supreme Court ruled that, as described on the SCOTUSblog, “unchanged” human genes cannot be patented but maintained that those genes that had been created through a synthetic process could be protected. The case centered on Myriad Genetics’ patent claim on two genes associated with a higher risk of breast and ovarian cancer, BRCA1 and BRCA2. Subsequent to the Supreme Court Decision, a federal judge invalidated the patent on a noninvasive test used to detect Down Syndrome in October 2013. Sequenom brought the test to market in 2011.

Legal concerns aside, there is still quite a bit of debate about who should access genetic data and how. In November 2013, the Food and Drug Administration issued a warning letter to 23andMe, the company that had been selling and marketing consumer genetic testing kits. The warning letter asked 23andMe to stop marketing its tests and the associated data to consumers. The Agency’s concern; that consumers would receive raw data without the benefit of having a clinician or genetic counselor to interpret the results.

This past year has been exciting. The court decisions, Angelina Jolie’s op-ed and the regulatory agency’s movement indicate that genomics is a focus for decision-makers and the news outlets alike. It will be interesting to see how the issues continue to develop. What do you think 2014 has in store for genomics, genetic testing and targeted therapies?