Subscribe

Testing for cancer gene markers was expensive and almost impossible until a few years ago. The development of the direct-to-consumer (DTC) test kit to screen for possible breast cancer has now allowed more people to undergo the test without the need to go to a clinic. The test is unobtrusive and non-invasive. It could be done in the privacy of the home, or even on any desk. Patients mail their samples for testing and the results are sent back shortly. These tests are especially helpful for people who have a family history of breast cancer.

23andMe screening test box
Purchase your 23andMe screening test at Amazon now.

The good news is that the Food and Drug Administration (FDA) has approved the screening test for BRCA1 and BRCA2 genes. After almost five years, authorization was finally granted to 23andMe to market the screening test. In 2013, the FDA even issued a cease and desist order against the company for marketing tests for hereditary disorders.

The strongly-worded letter was addressed to CEO Ann Wojcicki, who bravely continued the good work they were doing even with all the challenges and hurdles they encountered. The company was recently vindicated with the approval, not just for the BRCA 1 and 2 tests, but a whole range of Personal Genome Service Genetic Health Risk (GHR) tests covering Parkinson’s disease, late-onset Alzheimer’s disease, celiac disease, alpha-1 antitrypsin deficiency, early-onset primary dystonia, factor XI deficiency, Gaucher disease type 1, glucose-6-phosphate dehydrogenase deficiency, hereditary hemochromatosis, and hereditary thrombophilia.

Breast Cancer Detection Made Easy

The Breast Cancer 1 (BRCA1) and Breast Cancer 2 (BRCA2) gene mutations are significant indicators of possible breast cancer in women, and prostate or breast cancer in men. It is emphasized that the majority of women who get breast cancer have no family history of the disease. The DTC screening is only applicable for those who with a history of breast cancer in the family. The test itself uses a blood sample, and not a tissue sample. This makes it an easier test and definitely more comfortable for the test subject.

The BRCA1 and BRCA2 genes are abnormal genes which can be inherited from either of the parents. Only about 5% to 10% of all incidents of breast cancer patients in the United States have the abnormal genes. However, those who do have the mutated gene have a higher risk of up to 60% to be diagnosed with breast cancer. In contrast, 12% to 15% of women overall are diagnosed with breast cancer. It should also be noted that other types of gene abnormalities have less probability of leading to cancer.

This DTC model for DNA testing is a trend that started last year and is expected to grow even more. In fact, there were more than 12 million tests conducted last year, according to industry estimates. This sudden boom, which resulted from aggressive competition in the industry, also  brought prices down significantly.

Improvements in results and significant price drops mean that genetic screening is now more accessible to the common consumer. This means that more people can gain access to genetic screening which can alert them on whether or not they have a genetic predisposition to get cancer later in life. In doing so, the industry hopes to detect early or even stop the development of cancer entirely for those who are at risk.

At Risk

There are other conditions to be considered prior to testing. There is little chance of BRCA1 or BRCA2 mutation if there is only a single family member who has had breast cancer, and this occurred when she was 45 years old or older.

Buy Your BRCA Test Kit on Amazon now

Those with the following are recommended for testing for the abnormal genes:

  • Has a family member with BRCA1 or BRCA2, or other inherited gene mutation which is linked to breast cancer.
  • Has had a prior history of breast cancer at 45 years old or younger.
  • A personal history of breast cancer, as well as a family member from parent, sibling, child, grandparent, grandchild, uncle, aunt, niece, nephew or a first cousin, with breast cancer at age 50 years old or younger.
  • A personal history of breast cancer and with 2 or more family members who have had breast, pancreatic, or aggressive prostate cancer.
  • A person of Ashkenazi Jewish lineage and a history of breast of pancreatic cancer.
  • A personal history of estrogen receptor-negative, progesterone receptor-negative and HER2-negative breast cancer and diagnosed at the age of 60 years old or younger.
  • A personal or family history of ovarian cancer.
  • A personal or family history of male breast cancer

If there is a low chance of finding the abnormal genes, specifically, if the candidate does not fit the above profile, there is no need to check screen for the BRCA1 or BRCA2 mutation.

There are more than a thousand mutations for the BRCA genes. Of these, only 3 mutations are linked to breast cancer development. The tests do not detect the mutations which do not lead to cancer. Having even one of these mutations result in women with significantly bigger risks of developing ovarian and breast cancer later in life. For men who have any of the 3 gene mutations they can also develop breast and prostate cancer.

The Ashkenazi Jews, as a group, have a significant chance of having a BRCA1 or BRCA2 mutation. However, people from other ethnic groups can also have the mutation, even if it is a considerably lower chance.

Other Players in the Field

Kalorama Information recently projected growth in the DTC laboratory testing niche to hit over $350 million in value by the year 2020. This accounts for a massive increase in consumers who are more educated and proactive about their health. There has also been a steady increase in the number of companie sproviding DTC lab testing options.

Aside from 23andMe, other key players include Color Genomics which sell color kits to help users identify if they’re at risk of developing ovarian and breast cancer.

  • Gene by Gene is a Houston-based company which offers a wide range of genetic tests.
  • Mapmygenome, based in India, screens for genetic traits, drug response, and inherited diseases.
  • Pathway Genomics, based in San Diego, CA offers various diagnostic tests which include hereditary cancer and carrier screening.
  • WellnessFX from San Francisco, for its part, uses advance blood testing to examine biomarkers that cover cardiovascular, metabolic, hormonal and even nutritional health issues.
  • Helix, another key player in the industry, recently raised $200 million to increase its visibility in the market. The company creates DNA Passports where people can discover and learn information from their DNA.

The availability of this direct to consumer test has a significant and bold impact in the lives of millions of people. Those who are pre disposed or candidates for cancer because of their family history can take the test on their own and not live anxiously with the possibility of developing the disease.

While this isn’t a direct cure for cancer or other degenerative diseases, prevention and early detection still makes a big difference. Having the power to take the test anytime a person wishes gives him some sort of control over his health and future.