Ever the BRCA genes, 1 and 2. Mutations

Ever since he could remember, Neil Schwartzman has been searching for his biological family. For 52 years of his life Neil tried everything, found nothing. His last hope and attempt was in registering for the 23andMe  Personal Genome Service. He signed up for only $100, spat in a test tube, and waited. Three years later, Neil received an email from a fellow 23andMe user; his biological half-sister. After confirming the nature of their relationship through further analysis available on 23andMe’s website, Neil flew to California, where he was finally, after 52 long years, reunited with his biological family. Neil Schwartzman’s journey is a story of DTC genetic testing bringing lives together. But DTC tests can also save lives. DTC tests enable anyone to analyze their own genome, and reveal any genetic problems that person may have. These tests stimulate people to invest greater interest into their own health, while increasing availability by allowing consumers to choose the DTC test that is affordable for them. Signing up for these DTC tests are simple; all the consumer has to do for most DTCs is pay the fee, sign waivers, spit into a test tube,  and mail to to the company. The sheer accessibility of DTC tests make it easier and more likely for people to care for their own physical health. DTC tests greatly expedite the lifesaving process genetic testing, by skipping the intermediary, hindering step of consulting a medical professional. An example of where the application of DTCs would reap great medical benefits is in breast cancer detection. Breast cancer is most notably a result of mutations of the BRCA genes, 1 and 2. Mutations in these genes heighten the risk considerably of contracting breast cancer. However, according to national health guidelines, testing for BRCA gene-related mutations is limited only to women with early-onset cancer,  and subsequently the relatives of cases testing positive for mutations in the BRCA genes. For women who believe themselves to be at risk for breast cancer but don’t meet those guidelines, under the status quo there is nothing that can be done. However, this is when the potential of DTC tests can be demonstrated. DTC tests overcome this restriction by enabling anyone to test themselves for BRCA gene related mutations. If a consumer utilizes a DTC test and it returns positive, then the consumer can take preemptive steps to reduce the risk of contracting breast cancer. These steps could range from simple to extreme; lifestyle changes like increased exercise, weight control, and a healthier diet lie on one end, while a permanent measure like undergoing a mastectomy lies on the other.  Upon receiving positive DTC test results, a consumer can also formulate a plan of medical action in order to streamline breast cancer treatment upon diagnosis. Expediting the treatment process is crucial; the longer the cancer is left untreated, the more likely it is to metastasize and become harder to treat. The average 5-year survival rate for female breast cancer patients has improved from 74.8% between 1975 and 1977 to 90.3% between 2003 and 2009, largely due to an increase in the number cases diagnosed early (). DTC tests can clearly provide at-risk consumers with previously restricted, potentially life-saving information.Of course, there are potential short-term risks of DTC testing to consider. These include a lack of oversight, and the psychological toll positive results could have on unprepared consumers. To address the first concern, there indeed is a current lack of federal regulation regarding DTC testing. However, this is simply a legislative problem, something that has faced nearly all modern medical advancements. There are two necessary actions which will fix this oversight problem. Firstly legal guidelines such as truth-in-advertising requirements for vendors, and across-the-board rules for DTC test administration and interpretation must be introduced. Secondly evidence-based reviews are essential in proving the effectiveness and accuracy of DTC tests. Should these two requirements be fulfilled, then DTC testing will be looked upon by the medical community much more favorably (). Regarding the prospect unexpected DTC test results would create a torrent of panic and improper medical actions for consumers, these fears are revealed to be unfounded. A recently conducted study surveyed 25 customers of 23andMe who received unexpected positives for mutations in the BRCA1 and BRCA2 genes. Instead of panicking, the majority of the customers took actions that were quite the opposite. None subjects of the study reported anxiety, and the majority of those subjects solicited medical advice regarding their positive results. Furthermore, all 25 subjects took additional, professionally administered cancer screening, of which 4 subjects subsequently, underwent risk-reducing surgery. The information from 23andMe’s DTC testing was shared by the subjects with their relatives; as a result, at least 30 family members underwent screening and mutations in the BRCA genes were discovered in 13 of these people. Access to DTC genetic testing improved the survivability of at risk consumers and their family members, without causing an increased chance of personal recklessness.