Twenty-five years ago this fall, Mary-Claire King and her colleagues made one of the great discoveries in genetics research: mapping the location of a gene that, when mutated, predisposes women to breast and ovarian cancer. King called the gene BRCA1, for BReast CAncer 1, although it could also stand for Berkeley, California, where her small group had persistently pursued their elusive quarry. She received scant support from the scientific community, which was skeptical that a complex disease like breast cancer could be traced (in a subset of cases) to a simple rogue gene.
If you think that the struggle of an intrepid female scientist determined to make a medical breakthrough against all odds sounds like fodder for a Hollywood movie … well, you’d be right.
Released in 2014, Decoding Annie Parker brings together King’s hunt for BRCA1 with the true story of Canadian Annie Parker (played by Samantha Morton), one of the first women to undergo BRCA1 genetic testing. King was portrayed by Helen Hunt, best known for the TV show Mad About You. Despite a minuscule budget, director Steve Bernstein recruited a star-studded cast including Aaron Paul (Breaking Bad) and Rashida Jones (Parks and Recreation).
King’s search for BRCA1 was the subject of my first book, Breakthrough: The Race for the Breast Cancer Gene (co-authored with Michael White), published 20 years ago. We also covered the ensuing race to isolate the BRCA1 gene. King narrowly lost that race to Myriad Genetics, the Salt Lake City biotech company, which subsequently monopolized BRCA1 genetic testing until the U.S. Supreme Court overturned gene patents in 2013.
Given how long Breakthrough had been out of print, I was delighted to receive a call from Bernstein in 2011 to discuss his debut film project. He wanted technical advice on the production design of King’s laboratory as well as the scientific accuracy of the script.
My only previous flirtation with Hollywood had been when a major agency had inquired about the film rights for my second book, Cracking the Genome, about the Human Genome Project. (Sadly, that discussion didn’t go anywhere.)
A few weeks later, I met with Bernstein and his production team in a cramped office some distance from Hollywood — hardly the glamorous surroundings I had imagined. But I was excited to sign on, even before he said I should expect a call from Hunt, as she would want some tips on playing the famous geneticist. (Alas, she never called.)
Back home, I devoured the script for Decoding Annie Parker. It was co-written by a British physician, Michael Moss, and Greg Bernstein, the director’s son. The Parker narrative was riveting, funny at times, wrenching at others. By contrast, the scenes set in King’s laboratory raised several alarms: Genes were confused with chromosomes, and double helixes with “gene pairs,” while explanations about cancer pathways left me shaking my head in confusion.
Bernstein had warned me that the film was being shot on a very small budget in just three weeks, so there would be little time to make wholesale changes in the script. I sent him a 10-page memo detailing every requested change, followed by hours on the phone with the scriptwriters.
My biggest issue was with a pivotal scene set in 1990, when King’s lab zeroes in on the location of BRCA1 on chromosome 17. (King first shared the news publicly in a lecture at the American Society of Human Genetics conference in Cincinnati that fall.) Her team had followed the inheritance patterns of multiple DNA markers in dozens of affected families, but the results were confounding: Some families showed strong hints of what geneticists call “linkage” between a marker on the 17th chromosome and the putative breast cancer gene, but many others did not.
One of King’s students, Beth Newman, had the genius idea of sorting the families by their average age of cancer diagnosis, theorizing that if women were carrying a predisposing faulty gene, they would likely develop cancer earlier. The seven families with the youngest age of onset all exhibited conclusive evidence of BRCA1’s location.
I excitedly explained to the filmmakers how this could be shown on screen, with blown-up family pedigrees covering lab benches, walls, and floors. The scriptwriters humored me but in the end, they opted for … well, you’ll just have to watch the film!
Decoding Annie Parker previewed in 2013 and secured a limited release across the United States the following year. King generously hosted a charity screening in Seattle and met the real-life Annie Parker on the red carpet. The film is now available on Netflix; the performances are great, particularly Morton’s in the title role. As the credits rolled, I waited patiently to see my name. Finally, there it was — Genetics Consultant — right after Samantha Morton’s Canadian dialect coach and Aaron Paul’s guitar coach!
Much has happened in the world of breast cancer genetic testing since the film came out, beginning with Angelina Jolie’s candid disclosures about her personal story. In its momentous 2013 decision, the U.S. Supreme Court struck down gene patents, dealing a blow to Myriad’s breast cancer gene sequencing monopoly. The decision opened the door for many diagnostics firms, including Ambry Genetics, Gene by Gene, and Pathway Genomics, to launch rival, more affordable gene tests.
In April, a Silicon Valley start-up called Color Genomics launched a potentially revolutionary 19-gene cancer sequencing kit, including BRCA1 and BRCA2, for the bargain price of $249. King, who is an unpaid advisor to the firm, says this venture could dramatically expand access to breast cancer testing. Health insurance coverage for cancer gene testing typically requires proof of family history, but some 50 percent of women who carry mutations in BRCA1 or BRCA2 have no family history of breast or ovarian cancer. “So if we only offer testing to women with a family history of breast or ovarian cancer, we’ll miss half of the women with mutations,” says King.
One such woman, Robin Karlin, undertook genetic testing only when her 22-year-old son learned he carried a specific BRCA1 mutation from a 23andMe consumer genetics test. Robin tested positive and subsequently underwent prophylactic surgery. That potentially life-saving surgery could arise from a $99 kit is a testament to the timeless contributions of women like King and Parker a generation ago.