Genetics in Health Care: An Overview of Current and Emerging Models

Abstract

Background: With advances in genetic and genomic medicine, the optimal integration of genetic services into the health care system remains of major concern in many countries. Objectives: To review the current organisation of genetic services, mostly in Europe, North America and Australia, explore emerging service delivery models, and probe challenges inherent in the transition process. Methods: We conducted a literature review of genetics in clinical practice: testing, diagnosis, counselling, and treatment. We examined the basic structures of genetic services, examples of integrated networks, and existing professional resources. We investigated services belonging traditionally in medical genetics as well as those developed for more common diseases. Results: Multidisciplinary specialist clinics and coordinated services appeared to be key to delivering proper care in rare genetic disorders. For oncogenetics, neurogenetics and cardiogenetics, interprofessional collaboration between geneticists and other specialists seemed to be favoured. On the other hand, there was also a tendency toward the integration of genetic services directly into primary care. Among the most pressing challenges was the morphing of paediatric care into adult care. Conclusion: The coordination of activities between professionals in first-, second-, and third-line medical care is a primary objective calling for the reconfiguration of professional roles and responsibilities. This entails the forging of new relationships as well as an enhanced sharing of expertise and genetic information, including information regarding services. Barriers to overcome include the redistribution of roles, sharing of data and databases, and the lack of preparedness of non-genetics professionals and of the health care system in general.

Assessing multilevel determinants of adoption and implementation of genomic medicine: an organizational mixed-methods approach

“…The first analysis of findings assessed the models of genetic service delivery in the VHA and found that a traditional model (as defined by Battista et al 39 ) of multidisciplinary clinics led by geneticists or coordinated services between geneticists and other providers was most prevalent, although there was variability in the organization of these services, with consults available on site, at another VA facility, via tele-genetics (video-/teleconferencing), or at non-VA facilities. This analysis also found non-genetics providers had integrated genetics into their practices, though there was considerable variability in the degree of integration by specialty.…”

Delivery of clinical genetic consultative services in the Veterans Health Administration

“…3 The lack of medical geneticists has been recognized as a serious problem Objective: To characterize the delivery of genetic consultative services for adults, we examined the prevalence and organizational determinants of genetic consult availability and the organization of these services in the Veterans Health Administration.…”

Reporting genomic secondary findings: ACMG members weigh in

“…This may reflect differences in health-care systems, including regulations governing genetic and genomic testing, health professional genetics education and training, and access to genetic health care and other health-care resources. 15 Therefore these external and organizational factors should be considered when planning the implementation of reporting secondary findings from exome or genome sequencing.…”