Issues in genomics

Genomics-related ethical, economic, legal and social issues (GE2LS) are concerned with both the nature and implications of the information.

A person's genome (complete set of genetic information):

  • is both unique and shared with their family;
  • contains information that can link it back to an individual and his/her relatives, even if the sample is de-identified;
  • carries predictive information about them that may be of interest to others (including employers, insurance companies etc); and
  • is ‘for life’: the information encoded within most cells is relatively stable throughout a person's lifetime.

The Garvan Institute of Medical Research is a member of the Global Alliance for Genomics and Health and is involved in discussions around the genomic ethical and social issues through contributing to government consultations and social research investigating responsible practices. These include: dealing with incidental findings and return of research results; data sharing and privacy; and public expectations of personal genomics.

International frameworks:
Global Alliance for Genomics and Health Regulatory and Ethics Working Group. Framework for Responsible Sharing of Genomic and Health-Related Data. 2014.

Ongoing research projects:
An exploration of Australian stakeholder views regarding the impact of Next Generation Sequencing on genetic counselling.
HREC Project No: 2014/909
Student researcher: Kirsten Boggs, as part of the Masters of Genetic Counselling at The University of Sydney.
Supervisors: A/Prof Marcel Dinger, Head, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research and A/Prof Kris Barlow-Stewart, Director, Master of Genetic Counselling, Genetic Medicine, Northern Clinical School.

Understanding the Australian public’s expectations of personalised genomics
Project ID: DP150100597; Australian Research Council Discovery Project; funding commencing in 2015
Investigators: Metcalfe, Prof Sylvia A; Newson, Dr Ainsley J; Gray, Dr Kathleen; Terrill, Ms Bronwyn N; Gaff, A/Prof Clara L; Middleton, Dr Anna; Wilson, Prof Brenda J
This multi-disciplinary project aims to be the first to explore the Australian public's awareness of new developments in genetic science that allow healthy individuals to access their own genetic makeup. The research aims to help define educational strategies and supports and thereby to inform national policy for personal genomics.

Discussion of frameworks for returning genetic research findings to patients with pancreatic cancer and their family members:
Johns AL, Miller DK, Simpson SH, Gill AJ, Kassahn KS, Humphris JL, et al. Returning individual research results for genome sequences of pancreatic cancer. Genome medicine. 2014;6(5):42.

National and international consultations:
NHMRC’s Return of Results from Omics-based Research and Clinical Practice: Targeted Consultation – December 2013
NHMRC's Draft Principles for the translation of ‘omics’-based tests from discovery to healthcare – September 2014

National Health and Medical Research Council Genetics and Human Health NSW Health Centre for Genetics Education
Global Alliance for Genomics and Health

See the Kinghorn Centre for Clinical Genomics Library page for additional references.