To understand the difference Counsyl’s Inherited Cancer Screen (ICS) could make in the way cancer is managed, consider the story of Joanne*, a mother of two who lives in a small town in west Texas. A few years ago, after her 51-year-old sister was diagnosed with breast cancer, Joanne made an appointment with Kaylene Ready for genetic counseling. Kaylene, now
Counsyl’s Director, Cancer Screening, took her history and learned that Joanne’s grandmother had died of unknown causes but her mother, an only child, was in her mid-70s and still healthy.
Her mother’s good health meant Joanne, age 46, did not meet the insurance company’s “high risk” criteria. If she wanted to take a genetic test to find out her own inherited cancer risk she’d have to pay out of pocket for it. Until recently that meant a bill of several thousand dollars so Kaylene was reluctant to push it. Instead she suggested that Joanne ask her sister to get tested for any cancer-related mutations because her insurance was more likely to cover it.
One year later Joanne was back in Kaylene’s office. This time she had a diagnosis of early stage breast cancer and this time her insurance covered the cost of a screening. As soon as Kaylene got Joanne’s results she called her. “Telling her that she had inherited a BRCA2 mutation was one of the worst phone calls I’ve ever had to make,” says Kaylene.
It allows more women to get tested and helps doctors, too
Counsyl has expanded its Inherited Cancer Screen to include 22 genes associated with breast, ovarian and gynecological cancers, as well as other types of cancer, including gastrointestinal and neuroendocrine. But what makes it a standout in the field of cancer screening is that it allows more women, like Joanne, to get tested and it simplifies the process of administering screenings for doctors.
Improvements in automating lab work, among other innovations, has allowed Counsyl to dramatically lower the cost of screening. It also has partnerships with several major insurers. If Joanne showed up in Kaylene’s office for the first time today, she could get screened for only a few hundred dollars instead of a few thousand.
“The high cost of screening has prevented many women from getting tested early enough to take advantage of a preventive cancer program,” says Dr. Andrea Stebel of Newport Breast Care. “The Inherited Cancer Screen is a step in the right direction. It makes screening more affordable, even for women who don’t qualify for insurance coverage.”
This is big. Counsyl estimates that 25 people are diagnosed with BRCA or Lynch Syndrome cancer every day who only learn of their carrier status then. And while it’s hard to know how many women diagnosed with cancer should have been identified as “high risk,” a look at just one population, Ashkenazi Jewish women, suggests that number is high. One out of 40 Ashkenazi Jewish women aged 20 and older, or 50,000, are carriers of a BRCA mutation and a majority, 60 percent, are missed by current screening guidelines. This means that among the Ashkenazi Jewish female population alone, more than 30,000 carriers aren’t eligible for insurance coverage and could benefit from the Inherited Cancer Screen.
“There’s no doubt the ICS could make a difference”
The ICS also makes it easier for doctors to do additional testing. It eases the administrative burden by offering streamlined tracking and online results. A team of genetic specialists offers on-demand counseling to help explain what those results mean. And since each test is coordinated through physicians, it’s easy for medical professionals to oversee screening and manage patient follow up.
Kaylene and her team at Counsyl have already hit the road to roll out the new expanded screen. She just returned from the BrightPink FitFest, in Chicago, where Counsyl sponsored a booth encouraging attendees to “get ahead of cancer.” Other events include a limited free cancer screening program in partnership with BrightPink and UCSF in San Francisco and the Race for the Cure on September 27th along the Embarcadero (“Join a Team” and choose “Counsyl” in the dropdown menu). Kaylene also plans to speak at several cancer-related conferences.
Her message is simple. “Anyone can add a new gene to their panel,” says Kaylene, “but not everyone can provide on-demand genetic counseling and get pricing to a point where it’s affordable. There’s no doubt that Counsyl’s Inherited Cancer Screen could make a difference for many thousands of people every year.”
*Not her real name