Washington – Genomics may be the field where big health innovations will occur in the future, but translating current genomic knowledge into better patient care is a challenge that physicians are struggling with today.
Few patients who could benefit from genetic tests are actually receiving them, and few physicians are confident in their ability to discuss genetic risk with their patients, according to VA researchers who are working not only to help bridge the gap between knowledge and practice in the field of genomics and cancer but also to educate physicians about ways they can use genomics to treat their patients.
“Healthcare providers, in general, are just not prepared for this genomic revolution,” explained Maren Scheuner, MD, a researcher with the VA Health Services R&D Center for the Study of Provider Healthcare Behavior. Speaking at a forum last month celebrating VA’s Research Week, she said, “Most healthcare providers lack confidence in their ability to recognize patients who have a genetic risk or who could benefit from a genetic test. They also lack the ability to counsel patients about genetic risk.”
Scheuner and her colleagues created an education program targeting clinicians who staff VA women’s clinics in Los Angeles. The program included a lecture series, a website, information sheets and brochures, as well as clinician tools. The researchers developed a clinical reminder in the electronic health record, reminding providers to collect and document comprehensive cancer family history from their patients. They also created a cancer family history questionnaire for patients to fill out in the waiting room.
“Family history is currently the best way to predict a patient’s chance of developing a hereditary disorder and of identifying which patients could benefit from the genetic tests that are currently available,” Scheuner said.
Prior to launching the education program, only 28% of patients contributed their family cancer history at the Los Angeles women’s clinics. After the program was launched in January 2010, that number rose to 60%.
The quality of family documentation improved remarkably, as well, Scheuner said. “Before implementation, we saw the information of 1st degree relatives (mother, father, sisters, brothers) was documented 76% of the time. That increased to 81%. But where we saw a huge difference was documentation of 2nd degree relatives (aunts, uncles, cousins), which rose from 48% to 62%.”
A full documentation of cancer lineage rose from 14% to 62%, which is key in recognizing hereditary patterns of cancer in a family, Scheuner said. Documentation of age of cancer onset rose from 19% to 43%. And documentation of Jewish ancestry, which can be related to some genetic mutations increasing cancer risk, went from 0% to 45%.
“As a result, we have seen an increase in the requests for genetic consultation,” Scheuner noted.
Benefiting the Patient
According to Caroline Goldzweig, MD, associate chief, Division of General Internal Medicine at the Los Angeles VA, the program has helped her become a far more capable and confident physician when it comes to genetic medicine. “When this program got started, my knowledge of genetics was quite limited and had significant gaps. Prior to this, I had found certain female patients with cancer histories but had not searched for this in any systematic way.”
Goldzweig said she is now more confident in identifying red-flag patterns of cancer in her patients’ histories. And she can better ascertain whether further examination is needed. “I understand what the tests mean for the patient, and I’m more confident in being able to [get the patient] to follow-up care.”
At the forum, Goldzweig discussed the case of Linda Miles, a patient at the Los Angeles VA women’s clinic for the last 11 years and a VA patient since 1975. Miles knew there was a history of cancer in her family, but it was not until last year, when Goldzweig asked about her family history, that she had ever quantified it for a physician.
The hereditary chart that she and Goldzweig compiled showed four aunts on her mother’s side, as well as two first cousins, had breast cancer. The chart also showed that Miles’ mother had died young and would not have had the opportunity to develop breast cancer if she were at risk for it. Miles also discovered that she had an aunt who had already tested positive for a BRCA mutation — a genetic mutation linked to predisposition for breast cancer. “After obtaining this detailed family history, it became clear it was important for her to be evaluated,” Goldzweig said.
Goldzweig sent Miles to Scheuner, who performed the genetic screening. The test came back negative, but it brought considerable peace of mind to Miles, who also said she would recommend to her cousins that they be tested, since they could still be at risk for being a carrier.
“I found out I wasn’t a carrier, but I know it runs in my family, so they could be at risk,” Miles said.