The evolution of hereditary cancer genetic counselling - mainstreaming, service redesign and patient experience in Lynch syndrome

Sep 23, 2026

Uploaded by hdkawk

Genetic counselling for hereditary cancer predisposition has evolved over more than three decades, propelled by genomic technology advances and widening use of tumour and germline testing. Expanded access to testing, treatment, and prevention has also created clinical, psychosocial, and system-level challenges. This review analyses the shift from traditional specialist-led counselling to mainstreamed testing pathways, using Lynch syndrome to examine service redesign, personalised risk communication, and patient experience, while weighing benefits such as cascade testing against increased result complexity and reliance on non-genetics clinicians.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages12

Reading Time30 min

AccessFree to download

Introduction

Traditional model of genetic counselling

Mainstreaming genetic testing pathways

Familial Cancer (2026) 25:84 [https://doi.org/10.1007/s10689-026-00597-6](https://doi.org/10.1007/s10689-026-00597-6) REVIEW The evolution of hereditary cancer genetic counselling: mainstreaming, service redesign and patient experience in Lynch syndrome Kelly Kohut1,2 · Sarah Cable2 · Alekhya Ashokan2,3 · StefaniaVicari4 · Hannah Ditchfield4 · Julie Young5 · Ben Bux5 · Fiona Lalloo6 Received: 3 May 2026 / Accepted: 9 August 2026 © The Author(s) 2026 Abstract Genetic counselling for hereditary cancer predisposition has evolved substantially over more than three decades, driven by advances in genomic technologies and the growing use of tumour and germline testing. These developments have expanded access to hereditary cancer testing, treatment and prevention, while also introducing new clinical, psychosocial and system-level challenges. This review examines the transition from traditional specialist-led genetic counselling to mainstreamed testing pathways. Using Lynch syndrome as a paradigm, we explore how service redesign, personalised risk communication and patient experience intersect in contemporary hereditary cancer care. This invited review synthesises clinical, academic and patient perspectives on the evolution of hereditary cancer genetic counselling. Lived experiences of Lynch syndrome were incorporated through patient and public involvement contributors involved in manuscript development and interpretation. Mainstreamed testing has expanded access to genomic information and strengthened opportunities for cascade testing and prevention within families. However, it has also increased testing volumes, complexity of results interpretation and reliance on non-genetics clinicians. As a result, effective care requires close coordination between genetics and cancer services, alongside support for shared decision-making, family communication and psychosocial needs. This review uniquely integrates clinical evidence and lived experience to highlight how mainstreaming has transformed the delivery of hereditary cancer genetic counselling but not the need for specialist genetics expertise. Lynch syndrome illustrates how genomics can be integrated into routine cancer care while maintaining personalised counselling and familycentred follow-up. These principles are relevant across hereditary cancer predispositions and inform the future development of genetic counselling services. Keywords Genetic counselling · Mainstreaming · Genetic testing · Shared decision-making · Lynch syndrome · Patient and public involvement (PPI) Kelly Kohut [k.e.kohut@exeter.ac.uk](k.e.kohut@exeter.ac.uk); [kelly.kohut@stgeorges.nhs.uk](kelly.kohut@stgeorges.nhs.uk) 1 Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, UK 2 Centre for Genomic Medicine, St. George’s University Hospitals NHS Foundation Trust, London, UK 3 Gastroenterology, St. George’s University Hospitals NHS Foundation Trust, London, UK 4 Department of Communication and Media, Loughborough University, Loughborough, UK 5 Patient Representative, London, UK 6 Manchester Centre for Genomic Medicine, St Mary’s Hospital Manchester, Manchester, UK Introduction Genetic counselling for hereditary cancer predispositions has been established for more than 35 years, first emerging in the UK, North America, Australia, the Netherlands and Nordic countries from the late 1980s [1–3] . Rapid expansion followed in the mid-1990s with the discovery of BRCA1 [4], BRCA2 [5] and the mismatch repair genes associated with Lynch syndrome [6–10] . Since then, practice has evolved in successive waves, driven by advances in genomic medicine and oncology [11–13] . Models of service delivery and professional roles have varied internationally and provision remains uneven, with some countries still lacking formal training programmes and clinical services [14] . Even in settings with established services, demand has increasingly outpaced capacity [1

FAQs

What drives the evolution of hereditary cancer genetic counselling over the last three decades?

Advances in genomic technologies and the increasing use of tumour and germline testing have driven substantial changes in how counselling is delivered and how testing access has expanded.

How does mainstreaming change the genetic counselling process in Lynch syndrome?

Mainstreaming integrates genomic testing into routine cancer care so non-genetics clinicians conduct pre-test discussions and initiate testing, while specialist genetics services support complex cases and post-test management.

What key challenges arise when hereditary cancer testing is mainstreamed?

Mainstreaming increases testing volumes, heightens complexity of result interpretation, and increases reliance on clinicians outside genetics, making close coordination and shared decision-making support essential.

Sep 23, 2026

Uploaded by hdkawk