Genetic Service Delivery: Infrastructure, Assessment and Information

Abstract

Identification of genomic determinants of complex disorders such as cancer, diabetes and cardiovascular disease has prompted public health systems to focus on genetic service delivery for prevention of these disorders, adding to their previous efforts in birth defects prevention and newborn screening. This focus is consistent with previously identified obligations of the public health system as well as the core functions of public health identified by the Institute of Medicine. Models of service delivery include provision of services by the primary care provider in conjunction with subspecialists, provision of services through the medical home with co-management by genetics providers, provision of services in conjunction with disorder-specific treatment centers, and provision of services through a network of genetics clinics linked to medical homes. Whatever the model for provision of genetic services, tools to assist providers include facilities for outreach and telemedicine, information technology, just-in-time management plans, and emergency management tools. Assessment tools to determine which care is best are critical for quality improvement and development of best practices. Because the workforce of genetics providers is not keeping pace with the need for services, an understanding of the factors contributing to this lag is important, as is the development of an improved knowledge base in genomics for primary care providers.

Are public health professionals prepared for public health genomics? A cross-sectional survey in Italy

“…Public health professionals could and should play an important role in the “honest broker” evaluation process that can discriminate those genomic applications that can improve health from those that are likely to result in potential harm and unnecessary health care expenditure through premature use. Most importantly, public health professionals can contribute to the modeling of public health genomic programs and primary care services that need to be developed, implemented, and evaluated [61-63]. …”

Growing Up in the Genomic Era: Implications of Whole-Genome Sequencing for Children, Families, and Pediatric Practice

“…Because population-based P-WGS would lead to frequent results indicating increased risk as well as false positives needing to be resolved, coverage of this increased patient load by genetic specialists will likely become untenable without a substantial increase in workforce. This means that responsibilities for providing P-WGS and subsequent patient support could become the domain of primary care clinicians, who may act independently or as part of a care team (50). …”

Are public health professionals prepared for public health genomics? A cross-sectional survey in Italy

“…Public health professionals could and should play an important role in the "honest broker" evaluation process that can discriminate those genomic applications that can improve health from those that are likely to result in potential harm and unnecessary health care expenditure through premature use. Most importantly, public health professionals can contribute to the modeling of public health genomic programs and primary care services that need to be developed, implemented, and evaluated [61][62][63].…”