Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges

Gemma A Bilkey; Belinda L Burns; Emily P Coles; Faye L Bowman; John P Beilby; Nicholas S Pachter; Gareth Baynam; Hugh J S Dawkins; Kristen J Nowak; Tarun S Weeramanthri

doi:10.3389/fpubh.2019.00040

Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges

Front Public Health. 2019 Mar 11:7:40. doi: 10.3389/fpubh.2019.00040. eCollection 2019.

Authors

Gemma A Bilkey^{1

2}, Belinda L Burns¹, Emily P Coles¹, Faye L Bowman¹, John P Beilby^{3

4}, Nicholas S Pachter^{5

6}, Gareth Baynam^{1

5

6

7

8}, Hugh J S Dawkins^{1

4

9

10}, Kristen J Nowak^{1

4

11}, Tarun S Weeramanthri^{2

12}

Affiliations

¹ Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, East Perth, WA, Australia.
² Office of the Chief Health Officer, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, East Perth, WA, Australia.
³ PathWest Laboratory Medicine, Sir Charles Gairdner Hospital, Nedlands, WA, Australia.
⁴ Faculty of Health and Medical Sciences, School of Biomedical Sciences, The University of Western Australia, Crawley, WA, Australia.
⁵ Genetic Services of Western Australia, King Edward Memorial Hospital, Department of Health, Government of Western Australia, Subiaco, WA, Australia.
⁶ Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, WA, Australia.
⁷ Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Department of Health, Government of Western Australia, Subiaco, WA, Australia.
⁸ Centre for Child Health Research, The University of Western Australia and Telethon Kids Institute, Perth, WA, Australia.
⁹ Sir Walter Murdoch School of Policy and International Affairs, Murdoch University, Murdoch, WA, Australia.
¹⁰ School of Public Health, Curtin University of Technology, Bentley, WA, Australia.
¹¹ Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia.
¹² Faculty of Health and Medical Sciences, School of Population and Global Health, The University of Western Australia, Crawley, WA, Australia.

Abstract

The expanding use of genomic technologies encompasses all phases of life, from the embryo to the elderly, and even the posthumous phase. In this paper, we present the spectrum of genomic healthcare applications, and describe their scope and challenges at different stages of the life cycle. The integration of genomic technology into healthcare presents unique ethical issues that challenge traditional aspects of healthcare delivery. These challenges include the different definitions of utility as applied to genomic information; the particular characteristics of genetic data that influence how it might be protected, used and shared; and the difficulties applying existing models of informed consent, and how new consent models might be needed.

Keywords: clinical utility; genetic disease; genomic data; genomic testing; genomics; healthcare; molecular diagnostics; public health.

Publication types

Review