UCLA Health’s Dr. Beth Karlan turned to genetics to solve the cancer conundrum

'I’m more optimistic than ever about the future for cancer patients,' says the world-renowned expert in gynecologic malignancies.

Dr. Beth Karlan, a professor of obstetrics and gynecology in the David Geffen School of Medicine at UCLA, recognized early in her medical practice that the answer to the cancer conundrum hinged on a greater understanding of a patient’s genetics.

“Helping women with gynecologic malignancies to live longer and better lives has not only been my lifelong commitment, but this quest has also greatly enriched my own life,” said Dr. Beth Karlan. (Photo by Joshua Sudock/UCLA Health)

So the world-renowned researcher and scientist turned to genetics as her focus and went on to become a pioneer in the study of the BRCA1 and BRCA2 genes and the role they play in the development of ovarian, breast, pancreas and prostate cancers.

Now at the top of her field, working as the director of Cancer Population Genetics at the UCLA Jonsson Comprehensive Cancer Center, Dr. Karlan is expanding her genetic studies to include a multidisciplinary approach to fighting other cancers.

Dr. Karlan has focused much of her professional life on investigating gynecologic malignancies and treating women dealing with the disease. Her clinical practice is centered on delivering leading-edge and compassionate cancer care to women and their families.

But her research has been applied to other cancer treatments as well.

"I am so incredibly grateful for the opportunities I have had at UCLA to pursue this work. I have supportive people all around me here,” said Dr. Karlan. “One reason I came to UCLA, very honestly, was to have a platform that could allow me to reach much further in this field, collaborating with the pan-UC Cancer Consortium and the UC Office of the President to affect research and treatment statewide and even worldwide."

Identifying cancer risk through genetics

Dr. Karlan became recognized worldwide for her use of genetics to predict and treat cancer in her patients. She created a database to help track progress with patients who have the BRCA1 and BRCA2 genes, which are linked to ovarian and breast cancers in women, and pancreatic cancer in men and women.

Such genetic profiles can lead to early detection and/or prevention of cancer in patients and help identify which treatments will work best.

Dr. Karlan identified subtype-specific biomarkers for early detection, prognostication and personalized therapies. More than 30 years ago, she established a human tissue biorepository to collect frozen tissue, serum and germline DNA from women with ovarian and other gynecologic cancers to study biological differences in cancers and to develop improved treatments for patients. 

This biorepository resource has been used in national and international collaborations, including The Cancer Genome Atlas Program, Consortium of Investigators of Modifiers of BRCA1/2 and the Ovarian Cancer Association Consortium. These collaborations have helped to shape current standards of care for gynecologic oncology.

For her gynecologic cancer research and clinical practice, Dr. Karlan was honored in July with a Lifetime Achievement Award from the International Gynecologic Cancer Society. Her translational research on hereditary cancers and genetic drivers have been key to preventing and treating ovarian cancer, thus improving the lives of women around the world, the international group said. 

"I’m humbled by this great honor and recognition by my peers and colleagues around the world," Dr. Karlan said.

Her most satisfying reward, however, is the improved quantity and quality of her patients’ lives. 

“Helping women with gynecologic malignancies to live longer and better lives has not only been my lifelong commitment, but this quest has also greatly enriched my own life,” said Dr. Karlan, who is vice chair of Women’s Health Research in the UCLA Health department of obstetrics and gynecology.

Progress made in recent years only further encourages Dr. Karlan and her colleagues to continue working to develop new breakthrough treatments and diagnostics. It is a global effort, and through UCLA's international health program, Dr. Karlan recently has been helping physicians in China improve the quality of their cancer research and treatment programs.

"Women in other countries have different challenges in addition to treating their cancer. We try to help in every way possible," she said. "We all work as a team. Being able to work at a great university with such wonderfully talented faculty across specialties has been invigorating, energizing and exciting. So yes, I am definitely not thinking about retiring anytime soon. There is so much meaningful progress we can make across the board. In fact, I’d say this is the most exciting time in my career.  I’m more optimistic than ever about the future for cancer patients."

Importance of genetic testing

Part of the leap of progress made by Karlan and her colleagues stems from a U.S. Supreme Court decision in 2013, in which the court unanimously ruled that scientists and biomedical companies in the U.S. cannot patent human genes that they have identified. The justices ruled that since the companies did not actually invent the genes, they could not patent them.

This allowed Karlan and other researchers to study the genes and implement genetic testing in patient diagnosis and treatment.

That case specifically involved the identity of the BRCA1 and BRCA2 genes, which, when mutated, can greatly increase the risk of ovarian and breast cancer. Testing for those genes was patented by Myriad Genetics, but the patent was overturned by the court.

Without the patent, a patient’s cost for gene testing was reduced tenfold, from about $4,000 to about $400. The ability to do this testing in a cost-effective way has saved thousands of lives, Dr. Karlan said.

Often, testing for the gene not only helps diagnose and treat that particular patient, but also can serve as an early warning for family members who might also have that gene. Testing can be done with a simple blood test or even a saliva sample.

Dr. Karlan is hoping to increase the use of cancer genetic testing to make it a routine part of cancer care and prevention.

“Perhaps one small positive from the pandemic is that telegenetics is now widely accepted and has become a standard of care. You can spit into a tube, send in your saliva sample, and then we can call you back to discuss the results," she said. "We can now deploy this to a much larger population. We are just starting down this road, but we hope to make this available to Californians no matter where they live, if they meet the national guidelines for cancer genetic testing. It really helps having the imprimatur and influence of UCLA to help make this happen."

Take control of cancer risk

While honing diagnostic and treatment techniques, Dr. Karlan said she always likes to remind the public that simple, healthy, preventive measures can go a long way toward avoiding cancer altogether.

"Cancer isn't going to go away. But some prevention is well within our power," she said.

"Stop smoking, lose weight, if needed, and try to eat healthier. Obesity is a real driver for increasing cancer risks. There are increased inflammation stresses and hormonal changes associated with obesity that can greatly increase cancer risks. These recommendations are not easy, but at least there are some factors that are within our own personal control."

Dr. Karlan has received numerous awards, including an American Cancer Society Research Professorship and the Society of Gynecologic Oncology Distinguished Service Award. She received the Ovarian Cancer National Alliance Rosalind Franklin Award for Excellence in Ovarian Cancer Research and the National Cancer Institute Director's Service Award.

Dr. Karlan also was appointed by President Barack Obama to the National Cancer Advisory Board and is an elected member of the National Academy of Medicine.