SNP panel can help clarify breast cancer risk in non-BRCA families

see page Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab

For families in which cases of breast cancer appear to be inherited but don’t fall neatly into a BRCA-associated high-risk group, increased screening frequency has been the only clinical recommendation. In this issue, Li et al. describe a multi-institutional effort to prospectively assess the value of a single-nucleotide polymorphism (SNP) panel in fine-tuning risk assessment in this group of women. There is an increasing number of common SNPs, each of which is associated with a relative risk of 1.05 to 1.3 of developing breast cancer. These relatively common alleles, each with a small effect, explain less than half of familial breast cancer, but their cumulative value has never been prospectively assessed. Investigators evaluated 1,608 women from 488 families in either the Breast Cancer Family Registry or the Kathleen Cuningham Consortium Foundation for Research into Familial Breast Cancer (kConFab) cohort. These women had been assessed to be at increased familial risk but were unaffected at enrollment. The women were followed for more than seven years. During this time, 205 of them were diagnosed with breast cancer. Based on the SNP panel analysis, the research team determined that clinical management of up to 23% of women in the study might have been altered due to genomic testing results. They concluded that an SNP panel could provide more accurate risk prediction than family history alone and might influence recommendations for cancer screening for high-risk women.—Karyn Hede, News Editor

Assessment of newborn genomic screening for progressive hearing loss

see page Newborn genetic screening for hearing impairment: a population-based longitudinal study

The most common sensory defect in children—hearing impairment—is typically screened for via auditory modalities. But auditory screening misses one to two cases per thousand in which hearing loss starts later and progresses through childhood. Wu et al. describe their experience with newborn genetic screening in Taiwan. The study included 5,173 infants born at a tertiary hospital between 2009 and 2015. Newborn genetic screening identified 82 (1.6%) babies with conclusive genotypes. The investigators then used serial audiometric results to follow infants with conclusive genotypes up to 6 years of age. The study confirmed the utility of newborn genetic screening in identifying infants with late-onset or progressive hearing impairment undetectable by current audiology-based newborn hearing screening. The results, they suggest, can help inform evidence-based cost-effectiveness analysis to justify population-wide genetic screening. However, they caution that implementing newborn genetic screening for deafness could raise ethical issues, including raising the risk of discrimination or stigmatization, respect for personal autonomy, and undue parental anxiety for the health of their children. —Karyn Hede, News Editor