Genomics and genetic selection

What is the issue?

 
This page is part of a series of articles summarising key and interrelated issues for the intersex movement in Australia, and our work:

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Medicine regards intersex traits as “disorders of sex development” (“DSDs”). This framing of intersex variations promotes the idea that an intersex variation is undesirable (Holmes 2008), even though we are capable of living happy, fulfilling lives. We believe that it is stigma that is harmful to intersex people, and not bodily diversity itself.

Many intersex traits are genetic and, over time, an increasing number of genetic causes for intersex traits are being discovered. The rationales for the elimination of intersex traits via genetic screening technologies frequently mirror the rationales for postnatal genital and gonadal surgeries – that is, they are grounded in the idea that it is wrong to grow up with atypical sex characteristics.

In many cases, intersex traits are considered suitable for elimination from the gene pool, and they may be offered to families and siblings of individuals with an identified intersex trait. IVF and other forms of genetic screening may eliminate sex chromosome variations. Examples include:

  • Androgen insensitivity, 5α-reductase deficiency (5α‐RD2) and 17ß-hydroxysteroid dehydrogenase 3 deficiency (17β‐HSD3) can be determined via specific tests that may be proposed if siblings or family members have a relevant diagnosis. These traits appear to be considered suitable for elimination, but there are no substantive health or quality of life factors justifying elimination other than risk of forced medical interventions (for which we read risk of stigmatisation) to underpin these rationales (Carpenter 2018a).
  • Sex chromosome variations, such as 47XXY (Klinefelter) and 45X0 (Turners) can be established via IVF and other tests. These traits are sometimes associated with cognitive and physical health issues, for example, 47XXY is associated with hypogonadism and a range of other issues, but there are low overall rates of diagnosis for this variation (Gravholt and others 2018; Herlihy and others 2011). Low rates of diagnosis may be linked to varying expression of the trait. Sex chromosome variations are also associated with higher rates of miscarriage.
  • In the case of congenital adrenal hyperplasia, prenatal treatment with dexamethasone may be offered to minimise physical expression of the trait. This treatment is controversial as it has been directly associated with consequences for the future child’s behaviour and sexual orientation (Nimkarn and New 2010; Dreger and others 2012), cognitive development (Dreger and others 2012; Hirvikoski and others 2012) and fertility (Poulain and others 2012). Siblings and other family members may also be offered genetic screening. Congenital adrenal hyperplasia can be associated with salt wasting, which is potentially fatal if not treated – genital surgeries are incapable of addressing this issue.
  • A 2016 Australian study reported an increase in the percentage of individuals with intersex variations receiving a genetic diagnosis from 13% to 35% (Eggers and others 2016).
  • There is a long history of clinical research into the prenatal or genetic origins of sexual orientation and gender identity, much of it drawing directly upon research on variations of sex characteristics or problematising sexual orientation or gender identity in people with intersex variations (for example, Meyer-Bahlburg 1990; Nimkarn and New 2010). These issues consequently have implications for other sexual and gender minorities (Sparrow 2013; Behrmann and Ravitsky 2013; Davis 2013).

Discrimination in the application of genetic screening and manipulation technologies is a distinct issue to access to reproductive technologies, including abortion. Prenatal selection and elimination on grounds of sex characteristics is more closely related to gender-biased sex selection (Hendl 2017).

Genetic screening technologies are becoming cheaper and more widespread.

Associated with the growth of the intersex movement, more families and children are becoming open about their experience, and more parents are declining medical interventions on their children. More children are growing up knowing about their bodies – including in Australia, and including children with congenital adrenal hyperplasia and salt wasting (Lohman and Lohman 2018; Compton 2018; Burgess 2015; Carpenter 2018b).

Not all forms of screening cause alarm. Neonatal screening for congenital adrenal hyperplasia has significant benefits, eliminating risks associated with salt wasting in this population (Department of Health 2020).

What do we know about practices in Australia?

Millions of dollars of Australian research funds go towards discovery of genetic causes of intersex variations. Rationales for such research have included “psychological trauma” (University of Queensland undated), yet no public funds support intersex-led peer and family support to address this issue.

Medicine and National Health and Medical Research Council guidelines on the use of assisted reproduction technologies treat intersex variations in the same way as other traits considered to be genetic disorders; they permit elimination when a “genetic condition, disease or abnormality” would “severely limit the quality of life of the person who would be born” (National Health and Medical Research Council, 2017). In some parts of the world such as the UK (Human Fertilisation & Embryology Authority undated), a list is maintained of conditions suitable for elimination, and this includes many intersex traits. In all countries, clinical information on specific intersex variations may contain advice on genetic screening for carriers (for example, Health Services Executive 2013; Carpenter 2018a).

The gene review committee of Mackenzie’s Mission preconception screening program has determined which genetic traits should be included in a pilot screening program in Australia. Following an invited submission by bioethicist and IHRA co-executive director Morgan Carpenter, the committee determined that:

Adverse impacts associated with DSD tend to draw on societal norms rather than intrinsic clinical features. This includes the experience of stigma, discrimination and other harms arising from a person’s body not conforming to norms of gender or biological sex. In particular, concerns were raised about the use of medical intervention to “fix” children born intersex without sound clinical rationale. There was also discussion of the message that inclusion of DSD in an carrier screening panel is premature, not least because of ongoing ethical debate regarding selecting against DSD. Thus, DSD that occurs in the absence of other serious clinical features did not meet our criteria for inclusion (Kirk et al. 2020).

However, in relation to prenatal screening, the situation in Victoria provides a clear illustration of the issues. Amor (2012; 2020) at the Royal Children’s Hospital Melbourne discusses the possibility of parents having a child with a “DSD” as a matter of “risk estimation”, including “risk of transmission from an affected parent to a child” or risk of having an “affected child”. Amor omits any discussion of quality of life, and presents deselection as a value-neutral option where diagnosis of a child with a “DSD” presents parents with “difficult choices about future pregnancies” (Amor 2012; 2020) – a framing which is highly prejudicial.

Despite this evidence from a genetic counsellor at RCH Melbourne, published in both 2012 and 2020, the 2019 Gorton review of assisted reproductive treatment in Victoria heard concerns about genetic deselection and asserted:

Stakeholders were also concerned about the potential deselection of embryos with some intersex variations. While the Act prohibits selection on the basis of sex, there were concerns that some intersex variations are classified as serious genetic abnormalities and screened out on that basis. While clinicians informed the Review that this deselection is not happening in practice, these concerns do highlight the need for more information regarding how and why embryos are chosen for implantation above others, to ensure that intended parents are fully informed about their fertility journey. Further consultation with people with intersex variations may be required to fully understand this issue (Gorton 2019)

This appeal to clinical informants is troubling, especially in the light of evidence of practices that are clearly and well-documented by clinicians in the field. Victorian legislation on assisted reproductive technologies (2008) contains a prohibition of sex selection, which might be viewed by uninformed readers to include reference to intersex:

28 Ban on sex selection

(1) A person carrying out a treatment procedure must not use gametes or an embryo, or perform the procedure in a particular way, with the purpose or a purpose of producing or attempting to produce a child of a particular sex.
Penalty: 240 penalty units or 2 years imprisonment or both.

(2) Subsection (1) does not apply if—
(a) it is necessary for the child to be of a particular sex so as to avoid the risk of transmission of a genetic abnormality or a genetic disease to the child; or
(b) the Patient Review Panel has otherwise approved the use of the gametes or embryo for the purpose or a purpose of producing or attempting to produce a child of a particular sex.

Even if the references to a “particular sex” are purported to intend a reference to intersex people – a reference that is inconsistent with other legal framings of intersex in, for example the Equal Opportunity Act (Vic) – the references to “genetic abnormality or a genetic disease” provide an exemption for the actions detailed by Amor. 2021 proposals for reform to this legislation before the Victorian Parliament protect access to assisted reproductive treatments on grounds of sex characteristics, but fail to address issues of discrimination in the application of assisted reproductive treatments.

Prenatal treatments also occur in relation to congenital adrenal hyperplasia. Prenatal dexamethasone was promoted via a parent support group prior to a 2013 Senate inquiry into involuntary or coerced sterilisation. We raised ethical concerns about the impact of this treatment and the Senate Community Affairs References Committee (2013) recommended that prenatal dexamethasone should “only take place as part of research projects that have ethics approval and patient follow-up protocols”. Current practices are undocumented.

As prenatal and preconception screening become cheaper and more widespread, we fear that more and more prospective parents will unnecessarily rule out having a child with an intersex variation. We know that parents respond to the information they are provided and the context that it is provided in. We know that access to affirmative information and peer and family support is extremely limited.

In contrast, neonatal bloodspot screening for congenital adrenal hyperplasia is beneficial and can eliminate risks associated with salt wasting including risks of profound impairment or death. This screening program is being rolled out across Australia’s States and Territories (Department of Health 2020).

Our position

Our position is grounded in the 2017 Darlington Statement, a community consensus statement by intersex organisations and advocates in Australia and Aotearoa/New Zealand:

25. We call for an end to the use of IVF and other forms of genetic selection to de-select variations of sex characteristics.

26. We call for access to reproductive services and fertility counselling for all intersex people, with protection of our reproductive autonomy, regardless of whether or not our capacity for fertility is considered to be in line with our legal sex.

We also call for research to reflect community priorities:

30. We call for more research, including clinical, sociological and psychological research, led by community input. Clinical research, including longitudinal research, requires true, non-medicalised controls.

Our position on genetic technologies is also reflected in the 2017 Yogyakarta Principles plus 10, “Relating to the Rights to Equality and Non-Discrimination (Principle 2)”, states shall:

L) Combat the practice of prenatal selection on the basis of sex characteristics, including by addressing the root causes of discrimination against persons on the basis of sex, gender, sexual orientation, gender identity, gender expression and sex characteristics, and by carrying out awareness-raising activities on the detrimental impact of prenatal selection on these grounds;

M) Take measures to address discriminatory attitudes and practices on the basis of sex, gender, sexual orientation, gender identity, gender expression and sex characteristics in relation to the application of prenatal treatments and genetic modification technologies.

These share the same principles as a United Nations interagency statement on preventing gender-biased sex selection (Office of the High Commissioner for Human Rights and others 2011). As with gender-biased sex selection, these statements and priorities are underpinned by a right to freedom from discrimination established in international human rights conventions.

The Yogyakarta Principles plus 10 also call for access to safe, affordable and effective contraception, and to abortion “without discrimination based on sexual orientation, gender identity, gender expression or sex characteristics”.

What have we done about it?

We lobby for resourcing for peer and family support, and for systemic advocacy. We have provided training for students of genetic counselling since 2015, and can provide similar training for other specialisms. We engage with institutions that are responsible for policy and practice in this field.

  • We have an ongoing interest in the work of Mackenzie’s Mission, a new preconception screening program that is reviewing which genetic traits to test for. Our engagement on this program is acknowledged in Kirk et al., 2020.
  • In July 2016, we published a comment on the sponsorship of “LGBTI” events by institutions that eliminate intersex traits
  • Morgan Carpenter has written on Intersex-related research must have direct input from intersex community, in the Star Observer, October 2015
  • In 2015, we made a submission on the Review of Part B of the Ethical Guidelines for the Use of Assisted Reproductive Technology in Clinical Practice and Research, September 2015
  • In 2015, we made a detailed submission on the Review of Part B of the Ethical Guidelines for the Use of Assisted Reproductive Technology in Clinical Practice and Research, 2007
  • In 2013, and while opposing the pathologisation of intersex traits as “DSDs”, Morgan Carpenter formally reviewed a “DSD genetics” website, detailing the genetic basis for many intersex traits.
  • In 2013, we raised issues about the use of prenatal treatments for congenital adrenal hyperplasia in our first submission to a Senate inquiry on involuntary or forced sterilisation. The Senate committee recommended that such interventions “only take place as part of research projects that have ethics approval and patient follow-up protocols”.

Further reading

Amor, David. 2012. ‘Genetic Counselling’. In Disorders of Sex Development: An Integrated Approach to Management, edited by John M. Hutson, Garry L. Warne, and Sonia R. Grover, 203–14. Berlin, Heidelberg: Springer. https://doi.org/10.1007/978-3-642-22964-0_20.

Amor, David. 2020. ‘Genetic Counselling’. In Disorders|Differences of Sex Development: An Integrated Approach to Management, edited by John M. Hutson, Sonia R. Grover, Michele A. O’Connell, Aurore Bouty, and Chloe A. Hanna, 281–93. Singapore: Springer. https://doi.org/10.1007/978-981-13-7864-5_21.

Androgen Insensitivity Syndrome Support Group Australia, Intersex Trust Aotearoa New Zealand, Organisation Intersex International Australia, Eve Black, Kylie Bond, Tony Briffa, Morgan Carpenter, et al. 2017. ‘Darlington Statement’. Sydney, New South Wales.

Australian Genomics Health Alliance. 2018. ‘Australian Genomics – Mackenzie’s Mission’. 2018.

Behrmann, Jason, and Vardit Ravitsky. 2013. ‘Queer Liberation, Not Elimination: Why Selecting Against Intersex Is Not “Straight” Forward’. The American Journal of Bioethics 13 (10): 39–41. https://doi.org/10.1080/15265161.2013.828131.

Burgess, Minna. 2015. ‘Baby M’s Story’. Brisbane & Gold Coast Maternity, Newborn, Baby & Family Photography by Minna Burgess (blog). 12 August 2015.

Carpenter, Morgan. 2015. ‘Intersex-Related Research Must Have Direct Input from Intersex Community’. Star Observer, 21 October 2015.

Carpenter, Morgan. 2016. ‘LGBTI Sponsorship and the Elimination of Intersex Traits’. OII Australia – Intersex Australia. 10 July 2016.

Carpenter, Morgan. 2018a. ‘Intersex Variations, Human Rights, and the International Classification of Diseases’. Health and Human Rights 20 (2): 205–14.

Carpenter, Morgan. 2018b. ‘Intersex/Differences of Sex Development and Mackenzie’s Mission’.

Community Affairs References Committee, Senate of Australia. 2013. Involuntary or Coerced Sterilisation of Intersex People in Australia. Canberra: Senate of Australia.

Compton, Julie. 2018. ‘“You Can’t Undo Surgery”: More Parents of Intersex Babies Are Rejecting Operations’. NBC News, 24 October 2018.

Davis, Georgiann. 2013. ‘The Social Costs of Preempting Intersex Traits’. The American Journal of Bioethics 13 (10): 51–53. https://doi.org/10.1080/15265161.2013.828119.

Department of Health. 2020. ‘Newborn Bloodspot Screening Condition Assessment Summary Congenital Adrenal Hyperplasia (CAH)’. https://www.health.gov.au/sites/default/files/documents/2020/02/newborn-bloodspot-screening-condition-assessment-summary-congenital-adrenal-hyperplasia_0.pdf.

Dreger, Alice, Ellen K. Feder, and Anne Tamar-Mattis. 2012. ‘Prenatal Dexamethasone for Congenital Adrenal Hyperplasia: An Ethics Canary in the Modern Medical Mine’. Journal of Bioethical Inquiry 9 (3): 277–94. https://doi.org/10.1007/s11673-012-9384-9.

Eggers, Stefanie, Simon Sadedin, Jocelyn A. van den Bergen, Gorjana Robevska, Thomas Ohnesorg, Jacqueline Hewitt, Luke Lambeth, et al. 2016. ‘Disorders of Sex Development: Insights from Targeted Gene Sequencing of a Large International Patient Cohort’. Genome Biology 17 (1). https://doi.org/10.1186/s13059-016-1105-y.

Gorton, Michael. 2019. ‘Final Report of the Independent Review of Assisted Reproductive Treatment’. https://www2.health.vic.gov.au/hospitals-and-health-services/patient-care/perinatal-reproductive/assisted-reproduction/regulatory-review

Gravholt, Claus H, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore, and Anne Skakkebæk. 2018. ‘Klinefelter Syndrome – Integrating Genetics, Neuropsychology and Endocrinology’. Endocrine Reviews, February. https://doi.org/10.1210/er.2017-00212.

Health Services Executive. 2013. ‘Androgen Insensitivity Syndrome Treating’.

Hendl, Tereza. 2017. ‘A Feminist Critique of Justifications for Sex Selection’. Journal of Bioethical Inquiry 14 (3): 427–38. https://doi.org/10.1007/s11673-017-9797-6.

Herlihy, Amy S., Jane L. Halliday, Megan L. Cock, and Robert I. McLachlan. 2011. ‘The Prevalence and Diagnosis Rates of Klinefelter Syndrome: An Australian Comparison’. Medical Journal of Australia 194 (1). https://www.mja.com.au/journal/2011/194/1/prevalence-and-diagnosis-rates-klinefelter-syndrome-australian-comparison.

Hirvikoski, Tatja, Anna Nordenström, Anna Wedell, Martin Ritzén, and Svetlana Lajic. 2012. ‘Prenatal Dexamethasone Treatment of Children at Risk for Congenital Adrenal Hyperplasia: The Swedish Experience and Standpoint’. The Journal of Clinical Endocrinology & Metabolism 97 (6): 1881–83. https://doi.org/10.1210/jc.2012-1222.

Holmes, M. Morgan. 2008. ‘Mind the Gaps: Intersex and (Re-Productive) Spaces in Disability Studies and Bioethics’. Journal of Bioethical Inquiry 5 (2–3): 169–81. https://doi.org/10.1007/s11673-007-9073-2.

Hudson Institute of Medical Research. 2018. ‘Discovery about How a Baby’s Sex Is Determined’. Hudson Institute of Medical Research (blog). 17 December 2018.

Human Fertilisation & Embryology Authority. Undated. ‘PGD Conditions Licensed by the HFEA’.

Kirk, Edwin P., Royston Ong, Kirsten Boggs, Tristan Hardy, Sarah Righetti, Ben Kamien, Tony Roscioli, et al. 2020. ‘Gene Selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)’. European Journal of Human Genetics, July. https://doi.org/10.1038/s41431-020-0685-x.

Lohman, Eric, and Stephani Lohman. 2018. Raising Rosie Our Story of Parenting an Intersex Child. London: Jessica Kingsley Publishers.

Meyer-Bahlburg, H. F.L. 1990. ‘Will Prenatal Hormone Treatment Prevent Homosexuality?’ Journal of Child and Adolescent Psychopharmacology 1 (4): 279–83. https://doi.org/10.1089/cap.1990.1.279.

National Health and Medical Research Council. 2017. ‘Ethical Guidelines on the Use of Assisted Reproductive Technology in Clinical Practice and Research’. National Health and Medical Research Council.

Nimkarn, Saroj, and Maria I. New. 2010. ‘Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency’. Annals of the New York Academy of Sciences 1192 (1): 5–11. https://doi.org/10.1111/j.1749-6632.2009.05225.x.

Nisker, Jeff. 2013. ‘Informed Choice and PGD to Prevent “Intersex Conditions”’. The American Journal of Bioethics 13 (10): 47–49. https://doi.org/10.1080/15265161.2013.828125.

Office of the High Commissioner for Human Rights, UNFPA, UNICEF, UN Women, and World Health Organization. 2011. Preventing Gender-Biased Sex Selection: An Interagency Statement. Geneva: World Health Organization (WHO).

Organisation Intersex International Australia. 2013. ‘Submission on the Involuntary or Coerced Sterilisation of People with Disabilities in Australia’. Sydney: Organisation Intersex International Australia.

Poulain, Marine, Nelly Frydman, Clotilde Duquenne, Thierry N′Tumba-Byn, Alexandra Benachi, René Habert, Virginie Rouiller-Fabre, and Gabriel Livera. 2012. ‘Dexamethasone Induces Germ Cell Apoptosis in the Human Fetal Ovary’. The Journal of Clinical Endocrinology & Metabolism 97 (10): E1890–97. https://doi.org/10.1210/jc.2012-1681.

Sparrow, Robert. 2013. ‘Gender Eugenics? The Ethics of PGD for Intersex Conditions’. The American Journal of Bioethics 13 (10): 29–38. https://doi.org/10.1080/15265161.2013.828115.

University of Queensland. Undated. NHMRC PROGRAM GRANT: Molecular genetics of sex determination and gonad development – UQ Researchers.

Varnham O’Regan, Sylvia. 2015. ‘New Research Provides Clues to Why People Are Born Intersex’. SBS News, 1 October 2015.

Victoria. 2020. Assisted Reproductive Treatment Act 2008. https://www.legislation.vic.gov.au/in-force/acts/assisted-reproductive-treatment-act-2008/024.

Yogyakarta Principles. 2017. The Yogyakarta Principles Plus 10: Additional Principles and State Obligations on the Application of International Human Rights Law in Relation to Sexual Orientation, Gender Identity, Gender Expression and Sex Characteristics, to Complement the Yogyakarta Principles.

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