Consumer genomics firm 23andMe has begun offering BRCA1 and BRCA2 testing to help customers ascertain their risk of developing breast or ovarian cancer.
On its website, the company said its service tests for the i4000377, i4000378, and i4000379 SNPs in those genes, either one of which may "influence your carrier status for breast/ovarian cancer."
For genotyping samples, 23andMe recently upgraded from Illumina's single-sample BeadChip platform to the new HumanHap550-Quad+ platform, which reads more than 550,000 SNPs. However, the BRCA SNPs were added to 23andMe's custom-designed set that analyzes more than 30,000 additional SNPs.
Describing BRCA testing for breast and ovarian cancer on its site, 23andMe does not provide links to published studies for the three SNPs. However, the company notes that "these mutations greatly increase not only the risk for breast cancer in women, but also the risk for ovarian cancer in women as well as prostate and breast cancer among men.
"Hundreds of cancer-associated BRCA1 and BRCA2 mutations have been documented, but three specific BRCA mutations are worthy of note because they are responsible for a substantial fraction of hereditary breast cancers and ovarian cancers among women with Ashkenazi Jewish ancestry," the company states on its site. "The three mutations have also been found in individuals not known to have Ashkenazi Jewish ancestry, but such cases are rare."
In the Terms of Service section of its website, 23andMe stresses that data generated by its service is for information and education only and is not meant to help "diagnose, cure, treat, mitigate, or prevent a disease or other impairment or condition, or to ascertain [one's] health."
Breast and ovarian cancer as a result of BRCA1 and 2 mutations are rare. Between 3 percent and 5 percent of breast cancer cases and between 7 percent and 10 percent of ovarian cancer cases are thought to be linked to the mutations.
According to the National Cancer Institute, however, women with altered BRCA1 or BRCA2 genes are three to seven times more likely to develop breast cancer. While 1.7 percent of women in the general population will eventually develop ovarian cancer, between 16 percent and 60 percent of women with altered BRCA1 or 2 genes will get the disease.
Due to the high prevalence of the disease in women who test positive for mutations in the BRCA 1 or 2 genes, BRCA testing, when used alongside clinical factors and family history, is largely regarded by doctors as a medically useful genetic test.
Myriad Genetics, the maker of the BRACAnalysis test and the holder of several patents on the BRCA1 and 2 genes, launched a national direct-to-consumer campaign in September 2007 to educate the general public about the heritable genetic risk of breast and ovarian cancer. [see PGx Reporter 09-12-2007].
However, unlike BRCA testing received through 23andMe's service, which anyone with internet access and $400 can sign up for, Myriad's BRACAnalysis test can only be ordered by a physician.
In a statement to Pharmacogenomics Reporter, 23andMe stressed that offering BRCA testing does not mean the firm is moving into the medical genetic-testing space.
"23andMe's policy with regard to organizing and providing genetic information to its users has not changed. 23andMe's Terms of Service clearly state that the information we provide is not a medical diagnosis," a spokesperson for the company said. "Only a doctor can provide a medical diagnosis and we report information that the current state of genetic research and our technology allows.
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"While the information we report is educational and the user experience with our interface may be fun, our policy has always been to provide our users with the best scientific information available to us, and we continue to do that."
Whose Patent?
23andMe's new offering also raises questions about patent rights.
According to the US Patent and Trademark Office, Myriad Genetics holds several patents covering somatic BRCA1 and 2 mutations for breast and ovarian cancer. The patents also cover the methods and materials used to isolate the genes.
It is not clear if 23andMe holds the patents rights for SNPs i4000377, i4000378, and i4000379, or whether 23andMe licensed from Myriad the rights to test for the three BRCA SNPs. 23andMe did not respond to questions about the status of the patents covering the BRCA SNPs it uses.
Myriad is widely reputed throughout the genetic testing industry for aggressively defending its BRCA patents and charging high licensing fees to laboratories that want to offer such testing.
In the 1990s, Myriad and Oncormed were engaged in a lawsuit for US patents related to BRCA1 and 2 testing in breast and ovarian cancer. The lawsuit ended in 1998 with Myriad winning exclusive rights to Oncormed's patents for BRCA1 and BRCA2 breast and ovarian cancer genetic testing. Although Myriad paid Oncormed undisclosed fees in the settlement, costs related to the protracted legal battle with Myriad were a major factor in Oncormed eventually selling its assets to Gene Logic.
Myriad did not respond to a request for comment in time for this publication.
According to one physician, who has been following the issue closely, the patent issues around 23andMe's BRCA offering is currently an unknown, but the situation certainly has the potential to get murky.
"The real question lies not in the sequence itself, it lies in the chemical reactions required to create a new molecule which then is converted to something which can be interpreted," said Steven Murphy, founder of Helix Health, a personalized medicine practice based in New York and Connecticut.
Myriad "created all sorts of patents around the sequences including how to extract the sequence and obtain the information," Murphy told Pharmacogenomics Reporter this week.
This could be particularly problematic for the Laboratory Corporation of America, which performs the genotyping for 23andMe's service. "So whether or not there is a sequence violation, LabCorp could face an extraction violation," Murphy added.
LabCorp did not reply to a request for an interview prior to deadline.
In the US, Myriad charges more than $3,000 for the BRACAnalysis test. Meanwhile, the three BRCA SNPs tested by 23andMe are part of the more than 90 traits for which the company charges $399 to generate genetic risk data.