Exploring the potential duty of care in clinical genomics under UK law.

Deirdre Goodwin,Raoul Hennekam,Jessica Bell,Susan Wallace,Elizabeth Ormondroyd,Jane Kaye,Jenny C. Taylor,Simon Phillips,Michael Fay,Corrette Ploem,Alison Hall,Colin Mitchell,Victoria Chico

doi:10.1177/0968533217721966

Abstract

Genome-wide sequencing technologies are beginning to be used in projects that have both clinical diagnostic and research components. The clinical application of this technology, which generates a huge amount of information of varying diagnostic certainty, involves addressing a number of challenges to establish appropriate standards. In this article, we explore the way that UK law may respond to three of these key challenges and could establish new legal duties in relation to feedback of findings that are unrelated to the presenting condition (secondary, additional or incidental findings); duties towards genetic relatives as well as the patient and duties on the part of researchers and professionals who do not have direct contact with patients. When considering these issues, the courts will take account of European and international comparisons, developing guidance and relevant ethical, social and policy factors. The UK courts will also be strongly influenced by precedent set in case law.

Highlights

Clinical Genetics is the branch of medicine which deals with the diagnosis, management and counselling of patients with genetic disorders
Innovations in genome sequencing technology have transformed the prospect of providing patients with genetic diseases with a molecular diagnosis.[3]
Instead of relying on knowledge of a causative gene, these methods enable the entire genome of a patient to be screened in a nonhypothesis-driven manner.[4]

Summary

Introduction

Clinical Genetics is the branch of medicine which deals with the diagnosis, management and counselling of patients with genetic disorders. The potential benefits of an accurate genetic diagnosis are wide ranging: they can direct appropriate medical evaluation and interventions, which can be made earlier, saving care, treatment and other costs through the patient’s lifetime They can direct appropriate social and educational care, provide a tool for identifying other family members at risk of disease development and provide information on which to base reproductive and other lifestyle choices. Many large-scale research, clinical and hybrid genome sequencing initiatives are underway, including the Genomics England 100,000 Genomes Project in the United Kingdom.[7] This project will sequence the genomes of patients with a rare disease, some family members and patients with cancer, and aims to provide a diagnosis where there was not one before.[8] This is one of the largest clinical sequencing projects in the world and it aims to create a new genomic medicine service for the National Health Service (NHS). This article has a broader scope and explores a range of potential novel duties, including duties to relatives that may arise in clinical genomics

Challenges for clinical practice

Establishing novel legal duties for clinical genomics

Is there a duty to feed back secondary findings?

Are duties owed to relatives in Clinical Genomics?

Conclusions on the duty of care in clinical NGS

Cases cited