Clinical program is cost-effective for managing BRCA carriers long-term

Breast cancer is the second most common cancer among American women. For the average woman in the United States, the risk of developing the disease is about 13%. However, for women who carry pathogenic variants in BRCA1 or BRCA2, cumulative breast cancer risk jumps to between 61% and 79%. The genetic variants also predispose women to ovarian cancer. Although genetic testing for the variants is on the rise, studies demonstrating health outcomes and cost-effectiveness of clinical practices designed to manage patients identified as high risk remains insufficient. In this issue, Petelin and colleagues demonstrate that within a structured clinical program, long-term management of unaffected BRCA1/2 carriers is cost-effective. Drawing on clinical and cost data from a tertiary hospital database of 983 identified BRCA1/2 carriers, the researchers used a microsimulation model to estimate lifetime health outcomes and health-care costs within the Australian public health-care system. Women with no history of cancer or prior risk management entered the simulation at age 20 and were followed to age 100. The model simulated breast and ovarian cancer development but did not include recurrence or remission. Treatment intervention included participation in a multidisciplinary high-risk clinic in conjunction with risk-management strategies including annual breast screening and risk-reducing surgery. Compared with a “do nothing” approach, the intervention proved clinically more effective and also cost more. With a willingness-to-pay threshold of AUD$50,000 per quality-adjusted life-year, the intervention was cost-effective, with an incremental cost-effective ratio of AUD$32,359 for BRCA1 carriers and AUD$48,263 for BRCA2 carriers. The authors conclude that a familial cancer service is a cost-effective approach for the long-term clinical management of BRCA1/2 carriers, but caution that the results may not be generalizable given differences between health-care systems. –V. L. Dengler, News Editor

Choice of genomic newborn screening is not detrimental to parents’ psychology

Genomic testing and precision medicine for predicting and treating diseases have become more and more prevalent. This trend has given rise to the potential for genomic screening in newborns on a public health level. However, it remains unclear what parents want out of such testing and what impact it might have on them psychologically. Such unknowns introduce roadblocks to safe and effective implementation. Now Downie and colleagues report that when it comes to genomic screening for newborns, offering parents a choice does not have psychologically adverse effects. The researchers recruited parents of newborns with bilateral hearing impairment born in Victoria, Australia, in 2016 and 2017. Parents who consented to exome sequencing to look into the cause of their child’s hearing impairment could choose one of three analysis options: (1) a diagnostic analysis, (2) a diagnostic analysis plus additional genes associated with medically actionable childhood-onset diseases, or (3) a diagnostic analysis as well as genes associated with childhood-onset diseases with or without medical actionability. All participants received a decision-support tool and were offered genetic counseling. The majority of parents (68%) chose to receive additional findings, with 27.4% choosing option 2 and 40.6% choosing option 3. The authors report no difference in education, medical literacy, or family income between groups. Parents who chose to receive additional findings (option 2 or 3) had less anxiety at the time of making the decision, had less conflict around their decision, and were more tolerant of uncertainty, but decisional regret was low across groups. Family size, ethnicity, and the infant’s age and medical history contributed to whether parents asked for additional analysis. The authors conclude that genomic newborn screening is not likely to negatively impact parents’ psychology. –V. L. Dengler, News Editor