Inconsistent lab reporting of possible consanguinity points to need for guidelines

see Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing

The recent clinical availability of single-nucleotide polymorphism (SNP) microarray tests that can detect regions of homozygosity indicating that a child may have resulted from a consanguineous or incestuous relationship raises questions about how commercial laboratories handle these findings. Incidental discovery of a potential incestuous relationship raises serious ethical questions with potential legal ramifications. Despite the obvious need, there are no guidelines in place to assist in setting uniform standards for reporting suspected incest. In this issue, a group of investigators from Cincinnati Children’s Hospital report that, in the absence of standards, laboratories vary widely in their rationale and approach to reporting. Of the laboratories surveyed, almost half (8 of 18) chose not to report the possibility of parental consanguinity, and 16 did not report potential parental incest even when the findings suggested it. None of the laboratories had ever contacted legal authorities, social-work teams, or an ethics board regarding suspected incest. The study also found variation in the methodology used to determine a cutoff value for suspected uniparental isodisomy, pointing to the need for laboratory standards in these calculations as well. As SNP microarray testing expands, the likelihood of facing incidental findings with associated legal and ethical dilemmas will only increase, hence the importance of addressing these issues now. —Karyn Hede, News Editor

Shift from central labs to point-of-care newborn screening prompts dialogue

see A framework for key considerations regarding point-of-care screening of newborns

The development of rapid and reliable newborn screening technology is expected to increasingly shift the center of gravity from centralized reference laboratories to local, nursery-based settings. However, state public health departments face challenges to implementing new screening recommendations across a variety of birth settings. Using the recent experience of newborn screening for congenital hearing loss as a case study, the US Secretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) conducted a series of meetings to frame the criteria for determining whether to recommend new point-of-care screening for newborns. Kemper et al. report the results of those meetings in this issue. Recognizing the barriers to implementing new screening procedures, the SACHDNC recommends that before clinicians begin new bedside testing, there should be an urgent need for test results, earlier than can be provided by an off-site laboratory, and evidence of better health outcomes using the point-of-care method. In addition, public health authorities must be able to ensure oversight of universal access to follow-up treatment after diagnosis. The authors note that implementing newborn screening protocols will require buy-in from state legislatures and insurance payers, and they expect the bar for such screening to remain high. —Karyn Hede, News Editor