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Acceptance of neonatal genetic screening for hereditary hemochromatosis by informed parents
1Gastroenterology Unit, The Canberra Hospital, Canberra Clinical School, University of Sydney, Australia. mark.bassett@act.gov.au
Insights
Most expectant parents in Australia support neonatal genetic screening for hereditary hemochromatosis. While acceptance is high, parents should have an opt-out option for screening programs.
Area of Science:
- Medical Genetics
- Public Health
- Pediatrics
Background:
- Hereditary hemochromatosis is a genetic disorder.
- Neonatal genetic screening offers early detection.
- Parental attitudes are crucial for program implementation.
Purpose of the Study:
- To evaluate parental acceptance of neonatal genetic screening for hereditary hemochromatosis.
- To identify factors influencing parental attitudes towards this screening.
- To inform the development of potential screening programs.
Main Methods:
- Survey of 135 pregnant women and partners in Australian Capital Territory.
- Interviews and questionnaires assessed attitudes, risks, and benefits.
- Data analysis explored associations between demographics and acceptance.
Main Results:
- High acceptance rates for general neonatal screening (99%) and hereditary hemochromatosis screening (91.5%).
- No significant association found between demographics (age, ethnicity, education) and nonacceptance.
- Concerns included informed consent, diagnostic benefits, discrimination, and privacy.
Conclusions:
- Neonatal genetic screening for hereditary hemochromatosis is likely to be accepted in Australia.
- An opt-out provision is recommended for parental objections.
- Addressing parental concerns is vital for successful program rollout.
Abstract:
The aim of this study was to assess attitudes to neonatal genetic screening for hereditary hemochromatosis. A total of 135 consecutive, pregnant women and their partners attending a hospital antenatal clinic in the Australian Capital Territory were given detailed written and verbal information about potential risks and benefits of neonatal genetic screening. Issues such as uncertainty of disease expression, confidentiality, genetic discrimination, and storage of genetic data were addressed. Attitudes were assessed by interview and questionnaire. There was a high level of acceptance for neonatal genetic screening in general (99%) and for hemochromatosis in particular (91.5%). There was no association of prior knowledge of hemochromatosis, family history of hemochromatosis, ethnicity, age, education, or occupation class with nonacceptance. Of the subjects, 39.5% reported feeling "a little anxious" about the prospect of screening their infants, although only 5.4% reported feeling "very anxious." Reasons given for nonacceptance of screening included inability of the child to give informed consent, insufficient evidence that diagnosis of hemochromatosis in childhood is beneficial, risk of discrimination on genetic grounds, lack of agreement between partners, and privacy issues. These data suggest that an Australian neonatal genetic screening program for hemochromatosis is likely to be accepted by this and similar groups of subjects, but there should be an opportunity for parents who object to screening to opt out of any such program.
