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Selecting for a disability: the use of PGD

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Emily Higgs

on 10 October 2012

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Transcript of Selecting for a disability: the use of PGD

There is no universally agreed definition

The Australian Institute of Health and Welfare: disability arises from the combination of impairments and barriers that "hinder...full and effective participation in society on an equal basis with others". The impairments can include "long-term physical, mental, intellectual or sensory impairments" whilst the barriers can be attitudinal or environmental. What is a disability? an assisted reproductive technology
the process of genetic screening of an embryo prior to implantation
requires IVF and a suitable single-gene test
Genetic test looks at: identified family mutation + informative linked markers
examples: CF, FXS, Thalassaemia PGD - an overview Aneuploidies: currently detected in IVF/PGD

Deafness: approximately 60% of cases genetic, most commonly GJB2 (connexin 26)

ASD: microarray can detect genetic change in approximately 15% of patients (compared to 3% for conventional cytogenetics) (Palmer, Peters, & Mowat, 2012)

Anything that could be selected against could potentially be selected for... What is possible? Interesting cases Interesting cases: The Neurodiversity Movement Selecting for a disability: The use of PGD Disability by Design? source: http://www.yalescientific.org/2010/04/1042/ Came about in the past decade
Remains controversial
Claims that:
-ASD is natural human variation
-The variation is to be respected and valued
“Autism pride”, being “neurotypical”
Generally referring to milder end of spectrum Jaarsma P, & Welin S. (2012). Autism as a natural human variation: reflections on the claims of the neurodiversity movement. Health Care Anal., 20(1), 20-30. Interesting cases: "I don't want a giant living in my house!" Achondroplasia: autosomal dominant where the 'double dominant' is lethal
--> couples may be more inclined to access ART for this reason What’s a genetic counsellor to do? -> Look at the guidelines What's a genetic counsellor to do? *HGSA
*IVF Clinics
*Law -> Think about the role of a genetic counsellor What's a genetic counsellor to do? An advocate for the client
Non-directive facilitation of decision-making
Promoter of genetic health?
Conscientious objection?
Is it the GCs role to prepare the client for (negative) reactions of others Can draw from the selective termination debate and the sex selection debate The ethical arguments 1. Autonomy
2. Rights-based arguments
3. Beneficence and non-maleficence Parental rights vs. the "right to an open future"
McCullough & Duchesneau case
“saved for the child until he is an adult” 2. Rights-based arguments Genetic counselling puts a strong emphasis on autonomy (non-directive profession)

Tension can arise when autonomy conflicts with another goal, for example non-maleficence

Autonomy of the couple vs. autonomy of the (future) child 1. Autonomy Procreative beneficence? 3. Beneficence and non-maleficence may come across this in our careers
may come across related issues, eg. facilitating selective termination
Important to respect the rich and satisfying lives of people who belong to disability communities
Listen to the message these requests are sending
generate discussion and increased understanding of disability Implications for genetic counselling Disability community pride

Can we learn something from the message these couples are sending to those who do not have a disability? Final thoughts Savulescu argues for a duty of “procreative beneficence” (goes further than just not selecting for a disability, but a duty to have the ‘best child’)
however, acknowledges that his value judgments should not be forced upon others 'Unspeakable conversations' New York Times Feb 16th 2003 On 'open' future or a 'different' future? "Are we ''worse off''? I don't think so...For those of us with congenital conditions, disability shapes all we are...We take constraints that no one would choose and build rich and satisfying lives within them. We enjoy pleasures other people enjoy, and pleasures peculiarly our own. We have something the world needs...in fact I enjoy my life...it's a great sensual pleasure to zoom by power chair on these delicious muggy streets"
- Harriet McBryde Johnson To respect these parental values is “the ultimate test of nondirective counseling.”

Walter E. Nance, “Parables,” in Prescribing Our Future: Ethical Challenges in Genetic Counseling, ed. Dianne M. Bartels, Bonnie S. LeRoy, and Arthur L. Caplan, (New York: Aldine De Gruyter, 1993), p. 92. Look at the guidelines

Think about the role of a genetic counsellor

Think about the ethical arguments What's a genetic counsellor to do? HGSA Monash IVF:
refer to HGSA guidelines (NHMRC)
use Patient Review Panel
have had no requests in last 10 years (Tenille Davis, personal communication, 10th Oct 2012)
IVF Clinics Assisted Reproductive Treatment Act 2008 (VIC)

does not allow selection for a disability
Patient Review Panel established under this act The law http://www.monashivf.com/Services/Preimplantation_Genetic_Diagnosis__PGD_.aspx There are 3 main types of analysis PGD - an overview 1. PCR for SINGLE GENE DISORDERS
fluorescence reported probe labels sequence of interest 2. FISH ANEUPLOIDIES
Monash IVF uses 9 panel:
13, 15, 16, 17, 18, 21, 22,X,Y
using specifically designed probe sets
X-LINKED DISORDERS (sex selection) 3. Array CGH Detects genetic imbalances
eg TRANSLOCATIONS, ANEUPLOIDIES There have been several reported cases of couples wanting to select for short stature Although not in guidelines, US research has shown 3% of US clincs comply with requests to select for a disability
Baruch, S., Kaufman, D., & Hudson, K. (2008). Genetic testing of embryos: practices and perspectives of US in vitro fertilization clinics. [Research Support, Non-U.S. Gov't]. Fertil Steril., 89(5), 1053-1058. Epub 2007 Jul 1012.
Daar. (2005). ART and the Search for Perfectionism: On Selecting Gender, Genes and Gametes. Journal Gender, Race & Justice, 9, 241-272.
Feinberg, J. (1980). The Child's Right to an Open Future. In W. Aiken & H. LaFollete (Eds.), Whose child? Children's rights, parental authority, and state power. California: Rowman and Littlefield.
Genea. (2012). Genea Retrieved 7th October, 2012, from www.genea.com.au
Human Genetics Society of Australasia. (2011). Use of Assisted Reproductive Technology to Select for a Disability Retrieved 9th Oct, 2012, from https://www.hgsa.org.au/website/wp-content/uploads/2009/12/2007GD02-USE-OF-REPRODUCTIVE-TECHNOLOGY-TO-SELECT-FOR-A-DISABILITY.pdf
Jaarsma P, & Welin S. (2012). Autism as a natural human variation: reflections on the claims of the neurodiversity movement. Health Care Anal., 20(1), 20-30.
McBryde Johnson, H. (2003, 16th Feb 2003). Unspeakable Conversations, New York Times.
McCarthy Veach, P., LeRoy, B. S., & Bartels, D. M. (2003). Facilitating the Genetic Counseling Process: A Practice Manual: Springer.
Monash IVF. (2012). Monash IVF Retrieved 7th October, 2012, from www.monashivf.com
Nance, W. E. (1993). Parables. In D. M. Bartels, B. LeRoy & A. L. Caplan (Eds.), Prescribing Our Future: Ethical Challenges in Genetic Counseling: Transaction Publishers.
Palmer, E., Peters, G., & Mowat, D. (2012). Chromosome microarray in Australia: a guide for paediatricians. J Paediatr Child Health., 48(2), E59-67.
Parens, E., & Asch, A. (2000). Why I haven't changed my mind: reflections and refinements Prenatal Testing and Disability Rights (pp. 234-258): Georgetown University Press.
Parens, E., & Asch, A. (2003). Disability rights critique of prenatal genetic testing: reflections and recommendations. Ment Retard Dev Disabil Res Rev, 9(1), 40-47.
Savulescu, J. (2002). Deaf lesbians, "designer disability," and the future of medicine. [Review]. BMJ., 325(7367), 771-773.

Class discussions:
discussion of ethics of selection for deafness, facilitated by Robin Forbes, 3rd September 2012
role playing short-statured couple wanting to selectively terminate average-statured fetus, facilitated by Jan Hodgson, 13th Spetember 2012 REFERENCES Julian Savulescu, 'Deaf lesbians, “designer disability,” and the future of medicine' BMJ. 2002 October 5; 325(7367): 771–773 Is it a harm to be deaf, for example, if you otherwise wouldn't have been born? Allowing the part to stand in for the whole Parens and Asch:
"as with discrimination more generally, with prenatal diagnosis, a single trait stands in for the whole...precluding everything else that could be wonderful about a child"
Disability Rights Movement
Selective termination debate - also applies to PGD Parens, E. and A. Asch (2000). Why I haven't changed my mind: reflections and refinements. Prenatal Testing and Disability Rights, Georgetown University Press: 234-258. Feinberg, J. (1980). The Child's Right to an Open Future. Whose child? Children's rights, parental authority, and state power. W. Aiken and H. LaFollete. California, Rowman and Littlefield. asserts that negative attitudes expressed towards perceived undesirable traits send a hurtful message to those possessing these traits
the negative attitude may be misinformed or based on a stereotype
Example: selective termination after prenatal diagnosis
Example: prohibiting selection for a disability using PGD
Doing harm by disallowing PGD requests? The Expressivist Arugment Parens, E. and A. Asch (2003). "Disability rights critique of prenatal genetic testing: reflections and recommendations." Ment Retard Dev Disabil Res Rev 9(1): 40-47. www.monashivf.com, www.genea.com.au https://www.hgsa.org.au/website/wp-content/uploads/2009/12/2007GD02-USE-OF-REPRODUCTIVE-TECHNOLOGY-TO-SELECT-FOR-A-DISABILITY.pdf. http://www.health.vic.gov.au/art/
http://www.health.vic.gov.au/prp/ The role of a genetic counsellor to facilitate decision-making
-give information
-address psychosocial issues
-be non-judgmental
-> so that clients can make decisions in accordance with their own beliefs and values
client-oriented, focus on autonomy

Veach, P. M. C., LeRoy, B. S., & Bartels, D. M. (2003). Facilitating the Genetic Counseling Process: A Practice Manual: Springer.
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