Women with BRCA mutation may be helped by formal decision aid

see page Effect of decision aid for breast cancer prevention on decisional conflict in women with a BRCA1 or BRCA2 mutation: a multisite, randomized, controlled trial

An intervention designed to help women with increased hereditary breast cancer risk choose among risk-reduction strategies helps reduce their cancer-related anxiety, according to a new study reported in this issue. The research team studied 150 women with no previous diagnosis of cancer who had recently been found to carry a BRCA1 or BRCA2 mutation. Potential preventive strategies considered included prophylactic surgery (oophorectomy and/or mastectomy) and chemoprevention (tamoxifen). The Toronto-based research team tested whether presenting a formal decision aid in addition to standard genetic counseling would assist the women in determining which risk-reduction strategy was right for their circumstances. Women were recruited over three years from four clinical cancer genetics clinics in Canada and a US-based online support network. Women who received the decision aid exhibited less long-term cancer-related distress than those who received usual care, especially women undecided about cancer prevention in the first month after receiving positive BRCA genetic test results. However, the intervention had no effect on stress related to making a risk-reduction choice. The authors attribute the result to the fact that participants were highly educated and had low stress at baseline testing. Future studies should be conducted in more diverse patient populations, including a wider range of education and socioeconomic status, the authors conclude. —Karyn Hede, News Editor

Incidental maternal copy-number variants pose reporting conflict

see page Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

Noninvasive prenatal screening of pregnant women for detection of common fetal aneuploidies raises the ethical dilemma of how to handle incidental findings involving maternal DNA. The comingling of maternal and fetal cell-free (cf) plasma DNA can lead to confounding false-positive results when maternal DNA contains chromosomal abnormalities or copy-number variants (CNVs). In this issue, Brison et al. show that maternal CNVs result in incidental findings that pose reporting conundrums for clinical geneticists. They analyzed the genome-wide sequencing data for 9,289 pregnant women in Belgium and calculated the incidence of rare CNVs to be 10% for nonrecurring CNVs and 0.4% for disease susceptibility CNVs. The investigators identified five clinically actionable maternal CNVs, which were reported to the pregnant women and their physicians. Additional maternal CNVs were also identified, but the authors chose not to report those findings if it would not change pregnancy management or risk to the fetus. The authors note that the ability to tease out CNVs of maternal origin raises ethical issues about the responsibility of reporting. For this study, they adhered to ethical guidelines for invasive prenatal tests, but they point out that these guidelines are insufficient to cover a test that can produce both maternal and fetal results. —Karyn Hede, News Editor