Color Genomics has announced the sale of a $249 genetic testing kit for determining breast and ovarian cancer risk. The company will analyze samples for the BRCA1 and BRCA2 genes, as well as 17 other genetic variants associated with an increased risk of breast or ovarian cancer.
Until now, such testing has typically cost thousands of dollars. Gil says his company slashed the cost in a variety of ways, including using the latest technology to automate much of the process. The firm also recruited software engineers from leading companies, including Google and Twitter, to develop computer programs that streamline the analysis. In addition, Gil tells Shots, the company saves money by making the price so low that women don't need to get their insurance companies involved.
Critics question whether the results will provide women with reliable information, and say that ambiguous or misleading results could lead to unnecessary mastectomies and oophorectomies.
Color Genomics' website notes that men can also develop breast cancer, albeit rarely. Genetic testing of men can help them determine whether they could pass mutations in BRCA1, BRCA2 and other genes to their children. The test analyzes the following genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, and TP53.
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23andMe, a consumer genetic testing company, has relaunched its Personal Genome Service, which now includes a more limited selection of test results and has received approval from the U.S. Food and Drug Administration:
The relaunched service will offer FDA-approved tests that show whether an individual carries genes associated with 36 different disorders, such as cystic fibrosis, that could be passed on to a child.
But Dr. Cecile Janssens, a professor of epidemiology at Emory University in Atlanta, said the company still is not testing for the diseases that raised the most concerns for consumers in the past. These included tests for predisposition to common diseases such as heart attack, asthma and hip fractures, for which lifestyle factors are often more important, Janssens said.
The company also does not test for high-risk genetic variants such as BRCA1 and BRCA2 for breast and ovarian cancer and APOE for Alzheimer's, and it does not include pharmacogenetic testing. 23andMe said it is still working with the FDA for approval of those additional tests.
23andMe already offers tests for inherited genetic risks and drug response in other countries such as the United Kingdom, Canada and Sweden.
23andMe revealed that it has received 4 requests for user data from U.S. law enforcement agencies in the past quarter:
Those stats came in the first "transparency report" from the company on Wednesday. At the same time, it launched a new "personal genome service" (PGS) test that it says will provide you with 60 different data points covering "health, ancestry, wellness, and personal."
The transparency report is frustratingly vague. We asked the company how it defined the term "user data" and it told us: "Any personal information relating to one of our customers, including but not limited to name, email address, health, and genetic information." It confirmed that this includes the results of the tests it carries out on your behalf. But we don't know exactly what was asked for, or under what justification.
Likewise, who is "law enforcement"? Does it include the FDA? The company told us: "We've received requests from both state and federal law enforcement organizations. Only two of the four requests were legally valid, one from the FBI and one from a state law enforcement agency." So on at least one occasion the FBI has asked for specific details on an individual. We don't know for a fact it was their DNA tests, but since that is 23andMe's sole function, it's a fair bet.
Previously: FDA Permits Marketing of 23andMe Direct-to-Consumer Genetic Test
Color Genomics Launches a $249 Genetic Test for Breast Cancer Risk
The FDA will allow the genetic testing company 23andMe to offer information about three common BRCA mutations that can have an influence on breast cancer risk. According to the FDA, the test should not be used as a substitute for seeing a doctor:
The Food and Drug Administration for the first time has authorized a genetic testing company to offer screenings for three breast cancer mutations common in Ashkenazi Jews, giving consumers the ability to initiate testing at home and see results without talking to a doctor or counselor.
The agency's action on Tuesday permits the testing company, 23andMe, to report results as part of its $199 Health and Ancestry product, which uses DNA from saliva samples to inform customers about their families' countries of origin, along with information on genetic health risks. There will be no extra charge for the additional reports, which should be available in a few weeks to customers who actively opt in and request to see them, company officials said.
[...] But testing negative for the three mutations does not mean someone is in the clear, as there are over a thousand BRCA mutations associated with increased cancer risk. Some critics say that comprehensive genetic testing — an exhaustive analysis to detect all mutations associated with an increase in breast cancer risk — is preferable. Physicians, geneticists and policymakers have long been concerned that the enthusiasm over personalized medical information and genetic testing may place consumers who misunderstand or misinterpret results at risk of jeopardizing their health. Even for Jews of Ashkenazi descent, whose families originated in Eastern and Central Europe and who are most likely to test positive for the three mutations, testing negative is no panacea, as they may carry other mutations that increase cancer risk.
Also at STAT News, Reuters, and The Verge.
Related: FDA Permits Marketing of 23andMe Direct-to-Consumer Genetic Test
Color Genomics Launches a $249 Genetic Test for Breast Cancer Risk
23andMe Genetic Test Relaunches, but Transparency Report Reveals Law Enforcement Data Requests
FDA to Allow 23andMe to Sell Genetic Tests for Disease Risks
(Score: 0) by Anonymous Coward on Wednesday April 22 2015, @05:47PM
The genes listed are not all breast cancer-specific.
PTEN, p53, and EPCAM are associated with other cancers.
(Score: 1, Informative) by Anonymous Coward on Wednesday April 22 2015, @05:51PM
ambiguous or misleading results could lead to unnecessary mastectomies and oophorectomies
No doctor in their right mind would perform those operations without confirming the tests. Hospitals will not even believe you when you tell them your blood type.
(Score: 3, Informative) by takyon on Wednesday April 22 2015, @06:13PM
Breast cancer test 'Angelina Jolie effect' found [bbc.com]
[SIG] 10/28/2017: Soylent Upgrade v14 [soylentnews.org]
(Score: 2) by Nerdfest on Wednesday April 22 2015, @07:04PM
There is a business called "23 and Me" that does these tests (probably most of them anyway from what I can see) and also traces your genetic history. They've been around for a few years and are cheaper as well.
(Score: 3, Informative) by takyon on Wednesday April 22 2015, @07:39PM
https://en.wikipedia.org/wiki/23andMe [wikipedia.org]
https://customercare.23andme.com/hc/en-us/articles/202907450-Does-the-23andMe-service-include-analysis-of-the-BRCA-gene- [23andme.com]
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(Score: 2) by Nerdfest on Wednesday April 22 2015, @08:12PM
Thanks!