From tradition to transformation: evolving models of care in clinical genetics

Abstract

Purpose of review: The integration of genomics into mainstream healthcare is transforming clinical genetics into a foundational component of modern medicine. This review explores the evolution of clinical genetics service delivery, highlighting evolving models of care designed to meet rising demand, improve access, and ensure equitable, patient-centered genomic care.

Recent findings: Key models of care discussed include multidisciplinary team approaches, embedded genetic counselors, advanced practice providers, upskilled non-genetics specialists, laboratory-based genetics clinicians, primary care providers of genetic healthcare and automated/patient-directed models. Educational needs, funding and adjuncts such as genetic assistants, collaborative telegenetics, and digital tools are also discussed for their role in supporting sustainable implementation.

Summary: We recommend health organizations develop a roadmap for genomic medicine through creation of a genomic medicine governance framework, assessment of workforce capacity, definition of patient cohorts, and reviewing their infrastructure readiness. No single model of care is suitable for every context. By clearly defining needs, acknowledging limitations, and identifying potential risks, organizations can select the most appropriate models to address both current and future requirements. As genomics becomes increasingly embedded in routine care, we believe a coordinated, evidence-based approach is essential to ensure well tolerated, effective, accessible, equitable, and sustainable delivery of genomic medicine across diverse healthcare settings.

Keywords: clinical genetics; genetics workforce; genomics MDT; genomics models of care; mainstreaming genomics.

Box 1

no caption available

FIGURE 1

Components of a traditional centralized clinical genetics service. Solid lines indicate formal reporting or oversight relationships while the dotted line indicates a professional relationship. Human resources common to CGS are detailed under staffing. CG, clinical geneticist; CICU, cardiac ICU; GC, genetic counselor; GN, genetic nurse; NICU, neonatal ICU; PICU, pediatric ICU.

FIGURE 2

Conceptual clinical genetics service hub-and-spoke systems map integrating various contemporary models of care. CG, clinical geneticist; CGS, clinical genetics service; CGT, cell and gene therapies; GC, genetic counselor; GN, genetic nurse.