Protecting the future well: access to preconception genetic screening and testing and the right not to use it

ABSTRACT

In this article, I assess the ethical and legal implications for a progressive and inclusive approach towards people with disability, of providing publicly funded and universal access to carrier testing and expanded carrier testing. In answering this question I focus on two main concerns namely whether such access (1) involves a neoliberal individualisation of risk and responsibility away from the State and (2) might impinge on the reproductive and other rights of people with disability. With respect to this last question I ask specifically is it possible to provide whole-population preconception genetic carrier screening while legally guaranteeing the reproductive rights to conceive of prospective parents, both women and men, who test positive as a carrier for an inheritable genetic condition?

KEYWORDS:

• Disability
• genetic carrier testing
• reproductive rights

Acknowledgements

Thank you to Valerie Gutenev-Hale for her research assistance, Karen O’Connell and David Ellison for their helpful comments and the useful suggestions of the anonymous reviewers.

Disclosure statement

No potential conflict of interest was reported by the author.

ORCiD

Isabel Ann Karpin http://orcid.org/0000-0001-9326-3421

Notes

1 Medicare usually covers: (i)“free or subsidised treatment by health professionals such as doctors, specialists, optometrists and in specific circumstances dentists and other allied health practitioners and accommodation as a public patient in a public hospital (ii) 75 per cent of the Medicare Schedule fee for services and procedures if you are a private patient in a public or private hospital (does not include hospital accommodation and items such as theatre fees and medicines) and (iii) some health-care services in certain countries: Department of Human Services, ‘Australia’s health 2014’, http://www.aihw.gov.au/australias-health/2014/health-system/

2 Australian Institute of Health and Welfare, ‘National Healthcare Agreement (2015)’, http://meteor.aihw.gov.au/content/index.phtml/itemId/558998

3 Lew et al (2015), p 20.

4 Lew et al (2015), p 20. This upsizing has occurred where the DorYeshorim platform is used within orthodox communities in other countries as well. Notably Israel and the USA: see Inthorn (2014).

5 Berghs et al (2015), p 11.

6 Berghs et al (2015), p 11.

7 Bajaj and Gross (2014), p 1034.

8 Delatycki et al (2014), p 581.

9 American College of Obstetricians and Gynecologists Committee on Genetics ACOG (2011), p 1030.

10 Delatycki et al (2014), p 581.

11 Delatycki et al (2014), p 580.

12 Modra et al (2010).

13 See Karpin and Savell (2012) for a discussion of the controversy surrounding notions of seriousness in testing.

14 Delatycki et al (2014), p 583.

15 Bajaj and Gross (2014).

16 Edwards et al (2015).

17 Edwards et al (2015), p 6.

18 Edwards et al (2015).

19 Delatycki et al (2014).

20 For a small selection see: Asch (2003), Ettorre (2002) and Parens and Asch (2003).

21 Lippman (1991) and Phelan et al (2013).

22 The National Health and Medical Council Ethical Guidelines on Assisted Reproduction in Clinical Practice and Research state in paragraph 12.2 that PGD should only be used for the prevention of conditions that seriously harm the person to be born. There is an open question about whether late onset conditions such as breast cancer would fall within that definition. Nevertheless there has been regulatory approval of PGD for BRCA in Victoria and WA and in NSW clinics have interpreted the paragraph as inclusive of BRCA testing. See Karpin and Savell (2012).

23 Disability Discrimination Act 1992 (Cth).

24 There has been significant philosophical debate about whether moral value can be attached to the action of avoiding the birth of a child with a disability. In her book Scott (2007) at p 39 provides a critical discussion of the work of Derek Parfit who has suggested that there is no harm where the alternative for a child who would be born with a disability is not to be born. If that child never comes to exist, then there is no person affected by the decision. This is the non-person affecting principle.

25 Royal Australian and New Zealand College of Gynaecologists and Human Genetics Society of Australasia (2015), p 14.

26 Delatycki et al (2014), p 583.

27 For a detailed discussion of different government preconception health care initiatives see: Karpin (2010).

28 Lippman (2006).

29 Health Council of the Netherlands (2007).

30 Bonte et al (2014). The list includes: (1) follow a number of specific dietary prescriptions; (2) take specific supplements; (3) avoid obesity and anorexia; (4) moderate or abstain from use of alcohol, tobacco and various other recreational drugs; (5) avoid specific environmental exposures and chemicals; (6) avoid excessive psychological stress; (7) take specific precautionary measures in case of maternal health problems or when taking medication prior to conception; (8) avoid consanguinity and (in case of suspected risk) undergo genetic screening and if necessary, take appropriate measures, such as using assisted reproduction techniques, choosing a different reproductive partner, or abstaining from reproduction; and (9) last but not least time conception at an ‘optimal age’ via contraception and other means of family planning.

31 Indeed in the now well-known 1991 case of United Auto Workers v Johnson Controls US 111 S Ct 1196 (1991), the United States Supreme Court found that Johnson Controls attempts to stop fertile women working in jobs involving exposure to high levels of lead were in contravention of the anti-discrimination provisions in Title VI. One of the reasons this was found to be discriminatory was that it could not be shown that men were not also similarly affected. Women fought for the right to be exposed because these were some of the best paying jobs and ones with real promotional opportunities.

32 Cattapan et al (2015), p 110.

33 Warin et al (2015), Meloni (2015), Landecker and Panofsky (2013), Sullivan (2013), Geronimus (2013), Rutter (2012) and Rothstein et al (2009).

34 Waggoner and Uller (2015), p 177.

35 Waggoner and Uller (2015), p 179.

36 Goosby and Heidbring (2013).

37 Wienke et al (2014), p 191.

38 McGowan et al (2013), p 9.

39 Edwards et al (2015), p 7.

40 Scully (2008), p 800.

41 Scully (2008), p 800.

42 Tang et al (2008), Gough (2006), Johnson et al (2004), Tolman et al (2003) and Courtenay (2000).

43 Constantino and Charman (2012), Gillis-Buck and Richardson (2014), Goldman (2013) and Bombaci (2012), p 144.

44 Yuen et al (2015), Herbert et al (2006) and Risch et al (1999).

45 Autism Speaks (date unknown).

46 Anstey (2008), p 246.

47 Karpin and O’Connell (2015).

48 Human Genetics Commission UK (2011).

49 Bonte et al (2014).

50 Bonte et al (2014).

51 Elev et al (2003), Beaver et al (2008) and Viding et al (2005).

52 Karpin and O’Connell (2015).

53 See, for example, Albrecht and Devlieger (1999) and Levine (1987).

54 It should be noted that the proposal by the ACOG Joint Statement that age of onset would be a factor to be considered in any testing protocol might mean that BRCA 1 and 2 would not be included in universal panel testing. Notably, however, PGD is available in Australia to test for the presence of these breast cancer genes in embryos. See, for example, the website of IVF Australia which boasts PGD for BRCA1 and 2, http://ivf.com.au/fertility-treatment/genetic-testing-pgd#what-single-gene-disorders-can-pgd-test-for-.

55 Keogh and Otlowski (2013).

56 In the US, see Burlington Northern and Santa Fe Railway Company v Sheila White 126 S. Ct. 2405 (2006).

57 Genetic Information and Non Discrimination Act (GINA) Pub.L. No, 110-233, 122 Stat. 881 (2008).

58 GINA s 102(a).

59 National Council on Disability (2012).

60 Human Genetics Commission (2011).

Additional information

Funding

This research is supported by Australian Research Council [grant number DP150102935] “The Legal Regulation of Behaviour as a Disability” 2015–18 (with Dr Karen O'Connell).