In 2013, the U.S. Supreme Court invalidated a specific patent on gene testing for an isolated strand of DNA, which is thought to be linked to hereditary breast cancer. The invalidation of the patent, held by Myriad Genetics, meant that the company no longer had a monopoly on this method of cancer detection, and the field for gene testing in this area flung open. Competition to find easy, accessible methods of gene testing skyrocketed. On Tuesday, New York Times reporter Andrew Pollack argued that companies and labs aren’t necessarily competing, but collaborating.

Researchers from multiple European countries have started teamed up with the U.S. and each other in order to further breast cancer research. PHOTO VIA GOOGLE IMAGES

Researchers from multiple European countries have started teaming up with the United and each other to further breast cancer research. PHOTO VIA GOOGLE IMAGES

Geneticist Mary-Claire King conducted groundbreaking research in the medical field that ultimately led to the discovery of the BRCA gene, a DNA sequence that, when mutated, can lead to higher risk of breast cancer in an individual. Currently, labs and research companies across the United States and the world are working to develop methods of detecting these mutations in patients early on, so that breast cancer diagnoses can be significantly reduced.

For example, a Silicon Valley, California, startup called Color Genomics has proposed a genetic screening test that would simply require a saliva sample that most people could pay for without the help of insurance. Clinical laboratory rivals Quest Diagnostics and LabCorp are working together with French researchers to gain more information about the mutations of the breast cancer risk genes and how they can be identified as efficiently as possible.

Elad Gil, chief executive of Color Genomics, spurs his company’s mission forward with the goal of “democratizing access to genetic testing.” This company proposes a gene test analyzing saliva to identify any possible mutations in the two breast cancer risk genes, as well as other types of cancer-risk genes. The test would only cost around $250 at its start, and Gil told the Times that it would eventually become inexpensive enough that women could pay for the test themselves and not have to deal with complex insurance policies.

King, an unpaid advisor for Color Genomics, called for all American women ages 30 or older to be tested for breast cancer-risk genes. Upon winning the 2014 Albert Lasker-Koshland Special Achievement Award in Medical Science, she said, “many women with mutations in [BRCA] genes are identified as carriers only after their first cancer diagnosis … To identify a woman as a carrier only after she develops cancer is a failure of cancer prevention … It is time to offer genetic screening of these genes to every woman, at about age 30, in the course of routine medical care.”

One of the main criticisms of this method is that the test only identifies the presence of a cancer risk to any individual who takes it. While it is vitally important to reduce the number of cancer diagnoses, some researchers and medical experts are concerned that this method will expand the amount of at-home testing without direct consultation with a doctor, and may leave women “in a state of limbo as to whether they have an increased risk of cancer,” Pollack wrote.

Kenneth Offit, chief of clinical genetics service at the Memorial Sloan Kettering Cancer Center, further articulated this concern. “We have to be careful that we are not just increasing this group of worried-well who have incomplete information,” he said.

Another skepticism about this test is the proposed cost. Other companies currently charge upwards of $1,500 for the analysis of certain genes, and geneticists are worried that this is only a fraction of the cost to individuals because they will need doctor’s expertise contingent on their returned results.

Another alliance of research forces is attempting to reduce the uncertainties found in interpreting the BRCA genes, so that testing in the future would avoid the “limbo” Pollack referred to earlier. The Quest Diagnostics and LabCorps collaboration with other European researchers may provide more clear results that would actually put minds at ease about cancer risks, or put affected women on alert early if they test positive for breast cancer-risk genes.

The true race to the prevention of breast cancer now lies in reducing the rate of uncertain or inconclusive results, and many experts believe Color Genomics’ technology just isn’t quite ready for implementation at the public level. Ultimately, all kinds of labs, companies and research initiatives across the globe are pooling data to reduce uncertainties, especially from efforts like ClinVar and the BRCA Challenge.

At this point, Color Genomics’ proposal seems too good to be true. However, with the research of other firms, perhaps in the future, this technology will infiltrate routine prevention measures and one day reduce the number of breast cancer diagnoses, as well as increase the number of breast cancer survivors.