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Broader Genetic Testing for Cancers May Benefit Population Health

Conducting genetic testing on the general populations proved more cost effective than testing only high-risk populations and may have long-term benefits for population health.

Broader genetic testing may benefit population health

Source: Thinkstock

By Jessica Kent

- Screening the general population for breast and ovarian cancer gene mutations through genetic testing is more cost effective than screening only high-risk patients and may improve population health, according to a study published in the Journal of the National Cancer Institute.

Researchers measured the effects of screening American women aged 30 and older who had elevated risks for ovarian and breast cancer, and compared their results to the costs and effects of screening all women for these types of cancer.

Researchers developed a decision-analytic model to quantify costs, life expectancy, and quality-adjusted life-years (QALY), which reflect changes in lifespan by potential changes in life quality.

Testing only at-risk women for both ovarian and breast cancer gene mutations resulted in $49,282.19/QALY, or 0.04 years’ life-expectancy gained.

In comparison, screening all women for ovarian and breast cancer gene mutations resulted in $54,769.78/QALY, or 7.57 years’ life-expectancy gained.

Researchers also conducted probability sensitivity analysis (PSA) to determine the proportion of cost-effective simulations for screening both groups.

The PSA showed that screening all women for ovarian and breast cancer gene mutations resulted in 92.7 percent of simulations being cost-effective. Screening only at-risk women for ovarian and breast cancer mutations resulted in just 5.8 percent of simulations being cost-effective.

Researchers also found that testing all women can prevent 1.91 percent of breast cancer cases and 4.88 percent of ovarian cancer cases in American women, or 2386 breast cancer and 655 ovarian cancer cases per million.

“These results have important implications for clinical care and ovarian and breast cancer prevention,” the researchers wrote.

As the team points out, the current approach to cancer gene screening is to test only those patients with personal or family history that could indicate a high risk for developing these diseases.

However, this method is only moderately effective when it comes to identifying mutations and ruling out the absence of one.

“We and others have shown that this approach misses more than 50 percent of mutation carriers,” the researchers write.

Currently, healthcare providers tend to direct their attention to treating illnesses rather than preventing them, the team added. Focusing on the prevention of illness could have a positive effect on population health.

“Personalized cancer prevention can have a much bigger impact on reducing the burden of disease but requires a shift in focus to the unaffected population,” the researchers wrote.

Research has shown that most healthcare consumers are on-board with this idea. In a 2017 survey from Wamberg Genomic Advisors, 65 percent of respondents said they would be interested if their employer offered easy access to genetic testing for health purposes.

However, providers are less excited by the idea of genetic testing. Many feel ill-equipped to fully explain the nuances of genetic counseling to patients.

The researchers note that the healthcare system must address several redesign and implementation issues before applying new testing systems, such as raising health professional awareness, education, delivery logistics, and quality control.

In addition, the researchers state that it is necessary to develop and expand relationships between primary care physicians and geneticists to manage patients who are at high-risk for disease.

These measures will have additional costs, but the researchers state that the extreme cost-effectiveness of general population testing will have long-term benefits for both population health and the healthcare industry as a whole.

“Cancer prevention is the key to achieving long-term transformational change and cost-efficiencies in our health system,” the researchers wrote.

“It is important that we seize the opportunity to facilitate implementation of genomics for cancer prevention in health care.”


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