Actress’ Decision Fuels Genetic Testing Debate
Angelina Jolie's announcement in May that she has taken the prophylactic measure of a double mastectomy has brought to the fore the on-going debate around affordability and accessibility over genetic testing.
BRCA1 and BRCA2 genes are present in every human body, but a small proportion of the global population can develop a mutation of these genes that substantially increases their risk of getting breast cancer. Women with a BRCA mutation, like Jolie, can have a 60 to 80 per cent chance of developing breast cancer and are also at high risk of developing ovarian cancer. The majority of cancers are caused by DNA damage that accumulates over our lifetime, says Kat Arney, Cancer Research UK’s Senior Science Communication Manager, but on rare occasions a person can inherit a specific faulty version of a gene (such as BRCA1) that significantly increases their risk of certain cancers.
“In this case, there are usually many cases of the same or similar cancers running through a family. However, scientists think that fewer than five in every 100 cases of cancer can be attributed to inheriting specific ‘strong’ gene faults like these.”
For women with a BRCA mutation, a double pre-emptive mastectomy, designed to remove all breast tissue, reduces risk of breast cancer by an estimated 90 to 95 per cent. While only a small number of breast cancers are linked to known genetic risk factors, Otis W. Brawley, M.D., chief medical officer at the American Cancer Society says that women facing such a high risk need to have all the information and expertise at their fingertips to do what’s right for them. “This does not mean every woman needs a blood test to determine their genetic risk for breast and/or ovarian cancer,” he adds.
“What it does mean is women should know their cancer family history and discuss it with their regular provider. If appropriate, they should be referred to and have the opportunity to discuss their risk and their options with a genetic specialist.”
The celebrity factor
Jolie's shocking revelation has grabbed the attention of both men and women worldwide, turning BRCA gene mutations into a household topic as thousands of news sources scrambled to get a new angle on her brave decision. When celebrities publicize their illnesses and medical decisions, the impact can be more powerful than any number of well-researched health journals or scientific breakthroughs. According to Jessica Harris, Cancer Research UK’s senior health information manager, “In the year after Jade Goody was diagnosed with cervical cancer, about half a million more women in England went for cervical screening than usual. Whenever a celebrity is diagnosed with cancer, or as in Angelina Jolie’s case, has preventive surgery, it means more people are aware of and talking about the issue.”
Goody’s very public battle with cancer caused a massive surge in demand for cervical smear testing in the UK. However, within 6-12 months of her death, when media outlets had long run out of harrowing pictures of Goody’s decline, the number of women requesting smear tests returned to normal. Jolie’s intent behind her announcement in the New York Times was to break down the barriers of genetic testing for women, particularly around costs and accessibility for those at high risk. With more of a global reach in terms of fame than Goody, Jolie’s case is likely to promote awareness and vigilance among women of both cancer detection and the varying options available to them. But will this produce a predictable short-lived spike in the popularity of genetic testing and mammograms/MRIs – or could this dramatic media coverage inspire a lasting change in the way women look after their health internationally?
Whatever the outcome, Dr. Brawley advises women with a “mutation of known significance” to consider their quantifiable risk in making the very personal decision to have their breasts and ovaries removed or pursuing other options, such as more extensive screening for breast and ovarian cancer.
“Experts recommend women proceed cautiously, and receive a second opinion before deciding to have this surgery. The American Cancer Society Board of Directors has stated that ‘only very strong clinical and/or pathologic indications warrant doing this type of preventive operation.’ Nonetheless, after careful consideration, this might be the right choice for some women.”
Testing troubles
Advancements in the scientific understanding of human genetics offering patients life-saving information – as well as ground-breaking medical treatments – to fight disease and live longer lives. The genetic revolution is bringing rapid changes to the way we understand, diagnose and treat cancer, says Arney. “It is increasing our understanding of the individual risk of developing the disease and how we might prevent it. Scientists around the world are investigating how we can better use this genetic information to help us beat cancer, by predicting risk, detecting it at an earlier stage, and monitoring how the disease responds to treatment.”
At the moment, there is a handful of genetic tests available for free through the UK National Health Service (NHS) that can detect some of these major gene faults, including BRCA1 and BRCA2, APC (linked to bowel cancer) and TP53 (linked to breast and other types of cancer). Arney continues: “There’s also been significant progress in identifying variations in a larger number of genes that make a smaller contribution to cancer risk. Although testing for any single one of these genes is less informative, testing for several together will have a much bigger impact.”
But BRCA genetic tests are only offered to women who are known to be at a higher risk because of their family history, says Harris, unlike cervical screening which is offered to everyone in a certain age group. “It’s hard to predict what will happen to demand for these tests over the coming months or years,” she says, “but since Angelina’s story became public, Cancer Research UK has seen an increase in calls to our nurses’ helpline and more people posting messages on our patient forum.”
Yet the genetic testing and pre-emptive surgery story is rather different in the US, with accessibility and costs a much more pressing issue. “Insurance plans created before the passage of the Affordable Care Act are not required to cover the costs of genetic counselling, testing, and any surgery to reduce the risk of breast cancer,” explains Dr. Brawley, adding, “Under the Affordable Care Act, new plans are required to cover the costs of counselling and testing for breast cancer risk. There is no such mandate for the coverage of surgery.”
Furthermore, tumour suppressors BRCA1 and BRCA2 are exclusively patented by Mark Skolnick, co-founder of Myriad Genetics, which is the only company that has the right in the US to perform clinical tests or research on these gene mutations. Myriad has recently been legally challenged by the activist group, American Civil Liberties Union (ACLU), on the issue of patented genes, and health advocates and biotechs alike are currently waiting for the decision from the Supreme Court later this month. The outcome of the case could have sweeping implications for the lucrative biotechnology industry and for the general (female) public in terms of availability and accessibility of genetic testing.
Start-up companies are concerned that a win for the ACLU and the resulting loss of patents will have a detrimental effect on private investment in biotech. Meanwhile, Myriad’s monopoly of the BRCA patents has delayed some clinical research by other ambitious companies and the price of its test, over $3,000, would give many high-risk candidates pause.
Data does not equal clarity
In addition, Myriad’s genetic screening has its limits. For the small percentage of patients who receive an initial inconclusive result, Myriad does not have the capability to delve deeper. And although there are analysts that have the know-how to perform these tests, they will not publicize their talents openly as they are concerned about infringing Myriad’s patents and could be liable.
Inaccuracies and misunderstandings in genetic testing have led some groups, including the United States Preventive Services Task, to rally against such screenings. The agency reports that for every woman who gets tested for genes associated with onset breast cancer, even more will falsely test positive, leading terrified patients to make potentially rash medical decisions. Arney advises anyone who is concerned about a family history of cancer to speak to their doctor, to see whether it’s appropriate to go forward for genetic counselling and testing.
“The cost and speed of genetic testing has tumbled over the last decade due to huge advances in technology. But specific genetic mistakes are still tricky to spot in people who are unaffected by cancer unless there is a strong family history and, ideally, a DNA sample from a relative affected by cancer,” she says.
A 1998 studyfound that coverage of Nancy Reagan's 1987 mastectomy influenced women, especially those demographically similar to her, and those of lower income and educational status, to opt for mastectomies rather than breast-conserving surgery. In that vein, those most likely to ‘copy’ Jolie’s decision may not fully understand the complexities of the results of their genetic testing, even when completed by a reputable specialist company. This may explain the growing trend of mastectomies in the US as the population becomes more ‘aware’.
“It’s possible to pay a company to look at some of these variations in your DNA, but it’s not yet clear whether this information is useful, helpful or beneficial to people in the general population at the moment,” says Arney, who maintains work is on-going in this area. “Researchers are currently developing more accurate tests to assess a person’s risk of various cancers, which would help to inform decisions about screening and preventive approaches.”