Population wide reproductive carrier screening for deafness; lessons learnt from those who want the information but don’t know what they would do with it.

Ms Lucinda Freeman1,2, Prof Martin Delatycki3,4, Prof Jackie Leach5, Prof Edwin Kirk1,2,6

1School of Women and Children’s Health, University Of New South Wales, Randwick, Australia, 2Centre for Clinical Genetics, Sydney Children’s Hospital Randwick, Randwick, Australia, 3Murdoch Children’s Research Institute, Parkville, Australia, 4Victorian Clinical Genetics Services, Parkville, Australia, 5Disability Innovation Institute, University of New South Wales, Randwick, Australia, 6NSW Health Pathology East Genomics Laboratory, Randwick, Australia

Background: Whilst many commercial companies include non-syndromic deafness genes in reproductive genetic carrier screening (RGCS) panels, there is little research exploring the acceptability and utility of their inclusion. Although some couples wish to avoid having a child who is deaf, there are effective interventions and supports available for deaf children and there is no consensus on whether deafness is a severe health condition.

Aim: This study explored views of people who have had RCGS on the inclusion of genes for deafness in expanded carrier screening.

Methods: Surveys were sent to people who had previously undergone RCGS three months after they received their results.

Results:

930 people were invited to take part and 278 completed the survey (30% participation rate). When compared to other conditions screened in RGCS, 34% thought deafness was not a severe health condition, 30% thought it was, whilst 36% were unsure. Most participants (86%) indicated they would want to know their chance of having a child who is deaf.  Thirty five percent indicated they would make different reproductive decisions if they had an increased chance of having a deaf child; 31% said they would not change their reproductive plans and the remainder (34%) were unsure what they would do with this information.

Conclusion:

While a majority of respondents favoured prenatal screening for deafness, there was no consensus about whether it represents a health condition that would affect people’s reproductive decisions. Whether the hypothetical views of those who favour it would translate into actual reproductive decisions remains uncertain.


Biography:

Lucinda has over 15 years clinical experience as a genetic counsellor and is a Churchill Fellow. Lucinda is exploring stakeholder views of reproductive carrier screening and genetic forms of hearing loss.

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