Challenges with the introduction of genomic sequencing in medicine: genetic health professionals’ perspectives

Dr Danya Vears1

1 Centre For Biomedical Ethics And Law, KU Leuven, Leuven, Belgium

Next generation sequencing technologies (NGS) such as whole genome, whole exome, and large panels of genes, are rapidly changing the paradigm of medicine. Although initially NGS was used primarily for gene identification in rare disease, it is now used more widely in other areas of clinical care and, in some cases, can be requested by non-genetics specialists (e.g. cardiologists, oncologists, neurologists). Widespread use of NGS carries with it many ethical and practical challenges. One ethical challenge receiving much of the attention from ethicists relates to incidental findings (IF) – changes in the patient’s DNA that are extraneous to the original rationale for testing. However, whether this is as challenging in practice requires exploration.

Semi-structured interviews were conducted with 35 genetic health professionals (GHPs) in Europe, Australia, and Canada to ask about their experiences with requesting and returning results from NGS-based tests to patients. As part of these interviews, GHPs were asked which aspects they feel are most challenging about reporting of findings from NGS to patients/parents. Their responses to this question have been explored using inductive content analysis, where categories are identified from the data.

Some GHPs discussed challenges relating to IF, such as where a mutation has been identified that either uncovers a previously unknown risk of developing a late onset condition, or that identifies a worse prognosis for the patient than was suggested by their existing symptoms. However, GHPs raised other challenges which have previously received less attention, such as difficulties counselling patients when the results of the tests are negative or uncertain, educating non-genetics specialists, and managing patient expectations.

These findings highlight the importance of consulting with relevant stakeholders to identify which hypothetical ethical issues are actually problematic in practice. This has implications for training GHPs, as well as for development of feasible return of results policies.


Dr Danya Vears is a postdoctoral research fellow of the Research Foundation, Flanders in Belgium. Her current work  uses qualitative and quantitative methodologies to explore ethical aspects relating to the use of new genomic sequencing technologies in clinical care. Prior to this, she completed her Master of Genetic Counselling, and her PhD exploring parents’ and genetic health professional perspectives’ on carrier testing in children at the University of Melbourne, Australia. She is also a member of a number of national and international committees, such as the Education, Ethics & Social Issues Committee of the Human Genetics Society of Australasia.

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The Australasian Association of Bioethics and Health Law (AABHL) was formed in 2009.

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