Skip to main content
Premium Trial:

Request an Annual Quote

Study Reviews Family, Provider Responses to Rapid Whole-Genome Sequencing Follow-up

For a paper appearing in the European Journal of Human Genetics, a team from the Australian Genomic Health Alliance, the University of Melbourne, and elsewhere consider post-test interactions and other genetic follow-up experiences for patients, their families, and health professionals after rapid whole-genome sequencing (rWGS) done in the neonatal and pediatric intensive care contexts. Based on transcripts from semi-structured interviews with 30 parents to rWGS-profiled patients, seven genetic counselors, and four intensive care physicians, the team found a wide range of follow-up steps and experiences after rWGS, while exploring with the gaps flagged by patient families or providers and possible reasons for them. "Our findings emphasize the importance of follow-up contact between families and their child's medical genetic team in this context," they write, noting that "current approaches to follow up cannot be relied on to meet parents' needs, despite parents and health professionals having aligned intention about, and goals for, follow up."

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.