Kaiser Permanente leads the nation in many areas of preventive medicine, thanks to focused early detection efforts like regular breast cancer and colorectal cancer screenings. One of the organization’s experts on genetics believes it’s not too early to imagine taking it one step further: stopping many diseases before they happen.
“With the discovery of new technologies, it’s absolutely possible,” said Monica Alvarado, the regional genetic services administrator for Kaiser Permanente in Southern California. “However, even before we can offer state-of-the-art genetic testing and genetically targeted screening and therapies, that journey begins with identifying members who are at higher risk of having an inherited predisposition to diseases like cancer and other disorders before they strike.”
One family’s story
One family that benefited from genetic counseling and genetic testing were the Brambila sisters, Kaiser Permanente members in Baldwin Park, Calif. After the eldest sister, Minerva, was diagnosed with Stage 3 cancer, she had genetic counseling and tested positive for a mutation in the BRCA2 gene that leads to an increased risk of breast cancer and/or ovarian cancer. Her sisters, Maricela and Adriana, also tested positive for the BRCA2 mutation.
Adriana underwent a mastectomy when a lump in her breast was biopsied and came back positive for cancer. Although Maricela did not have cancer, she knew her risk was great and she decided to get a preventive mastectomy.
“It so happened that three people in the same family got tested. All of them had the mutation, but it was a 50/50 chance each time; it’s like flipping a coin,” Alvarado said.
Currently most women are identified as carrying a BRCA mutation only after they have been diagnosed with breast or ovarian cancer. “We want to change that paradigm and find the majority of BRCA1 and BRCA2 carriers before they are diagnosed with any cancer,” Alvarado added.
Armed with this information, a woman may opt to begin cancer screenings at an early age, giving her time to have a family and breastfeed her children while providing an opportunity of finding cancer and treating it at its earliest phase. Or, like Maricela Brambila, she may decide to have surgery to remove one or both breasts and/or the ovaries and Fallopian tubes. This enables her to virtually eliminate her risks for breast or ovarian cancer. Each woman can then choose the path that is best for her and her family. Watch a video about the Brambila sisters’ experience that aired on a local news station.
Reimagining care for these patients
“Genetic testing is your personal early warning system,” Alvarado said. “It gives you information that enables you to make better choices and to keep you and your loved ones safe and healthy.”
While genetic testing for BRCA1 and BRCA2 genetic mutations has been available to Kaiser Permanente members since 1997, the American College of Medical Genetics recently released a list of 57 genetic abnormalities leading to severe outcomes that are medically actionable.
“Genetic testing is changing rapidly,” said Pim Suwannarat, MD, regional chief and co-chair of the Inter-regional Genetics Workgroup, Mid-Atlantic Permanente Medical Group. “And the more genetic information gathered, the more likely we are going to have information for even rarer disorders.”
One of the ways in which genetics may play a huge part is in the treatment of epilepsy. “More and more neurologists are recommending genetic testing for children with seizures,” Dr. Suwannarat said. “There’s a tendency to believe that genetic alterations are underlying seizures, and more importantly, certain genes are associated with different responses to certain medications.”
While analyzing the genetic makeup of at-risk patients may be the best way to get ahead of the disease, and advancements in genetics help treat a disease once it occurs, genetics can also treat the stuff we aren’t born with. For instance, the genetic analysis of cancerous tumors can help medical personnel understand how the tumor responds to certain drugs and therefore what the most effective treatment options are.
“Genetics can help us find properties in the tumors themselves,” Dr. Suwannarat said. “Tumor profiling can help determine the treatment option based on what kind it is. Genetics help us target newer therapies for certain types of tumors.”
A precision-medicine approach to cancer care analyzes the body’s genetic predisposition to grow more tumors, to metabolize certain drugs, and the specific genetic abnormality of the tumor itself to come up with the most precise and effective treatment plan possible. These forms of treatment selection are already commonplace for many forms of cancer.
‘Family History and Risk Assessment’ pilot
The role Kaiser Permanente’s geneticists and genetic counselors play in the health of our members is significant and will become more so as technology advances. It is unrealistic to imagine that all members can or will get genetically tested given the time and cost which depends upon the member’s plan. One way to help busy clinicians with this rapidly growing field of complex information is to engage patients in the process of providing their own family history via electronic family history surveys.
The department of Genetics in Kaiser Permanente is conducting “Family History and Risk Assessment” pilot programs to collect family histories in a systematic way by having patients enter their family history of cancer into a simple electronic survey prior to their next appointment. The information provided by the patient can then be assessed by a risk engine and generate a report that would be available to the clinicians and identify high- and low-risk patients.
“We rely on members telling us their family history,” Alvarado said. “I used to tell my patients: If you don’t know your family history, talk to that inquisitive relative who knows all the family secrets and ask them about the family’s cancer history. Then take that information to your doctor.”