Needs reassessment of staffing and time management in clinical genetics

see The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing

Innovative practice models that improve efficiency or justify additional staffing may be needed to help clinical geneticists cope with increasing workloads, according to the results of an international survey reported in this issue. The results revealed that between 25% and 42% of a clinician’s time is taken up with face-to-face patient interaction. The remainder of the time is divided among various administrative tasks, including research on the increasingly complex array of tests and genomic databases, which are rapidly evolving. Time spent with patients now requires explanations of complex topics, such as depth of coverage, inclusiveness, testing of genes for which there may be no evidence-based management recommendations, and the probability of finding variants of uncertain significance, as reported by the survey research team, who are based in Israel and Canada. Administered online to attendees of professional clinical genetics meetings, the survey elicited responses from 151 professionals, mainly from Europe, North America, and the Middle East.

On average, survey respondents reported about 17 patient encounters per week, including both initial and follow-up visits. The study authors conclude that current work conditions are not conducive to a sustainable future, given that “it is unlikely that the direct reimbursement of genetics services can cover such high costs.” They argue that as the influence of genetics on medicine increases, health-care institutions should consider the impact of offering high-level genetics services on overall goals of offering high quality of care, research, and academic performance. —Karyn Hede, News Editor

Long-term study of familial hypercholesterolemia expands range of genetic defects

see Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement

A 15-year study of familial hypercholesterolemia (FH) in Portugal has led to identification of a wide variety of mutations in several genes. Because FH, an autosomal dominant disorder of lipid metabolism, can be treated to reduce the risk of life-threatening cardiovascular events, universal screening is recommended by the World Health Organization and has been conducted in Portugal since 1999. Long-term research led the study investigators to conclude that molecular analysis of FH patients should be expanded to include all coding sequence, promoter, and splice-site regions for four genes—LDLR, PCSK9, APOB, and APOE—due to the recently discovered mutations. The research project included 2,122 people diagnosed with FH. Over the course of the study, 13 novel variants of APOB, whose protein product is the main component of low-density lipoproteins, were identified in the study group. Two of these are disease-causing variants, four are polymorphisms, and seven are rare variants requiring further study. Three of the variants are reported in this issue for the first time. Study investigators are currently conducting functional analysis of the novel variants and developing a gene panel for clinical use. Additionally, the authors suggest that a more cost-effective approach to FH identification needs to be established, as well as a case-finding program and a cascade screening program. —Karyn Hede, News Editor