Newborn Screening: Survey of Parents’ Views and Experiences Robert Clark Clinical Ethics and Law Group Faculty of Medicine University of Southampton

Newborn Screening

Modern Advancements? Fragile X Syndrome? Lymphoblastic Leukaemia? Hereditary Haemochromatosis? Susceptibility to Type 1 Diabetes Mellitus?

Ethical Issues For Current Tests & Susceptibility Tests Benefits and Harms Autonomy – parental and child Cost-effectiveness

‘‘newborn screening should be mandatory and free of charge if early diagnosis and treatment will benefit the newborn’’. Current Need for Consent? National Screening Committee Leaflet available online at newbornbloodspot.screening.nhs.uk/

WHO GUIDELINESCurrent Tests E.g. Phenylketonuria Susceptibility Tests E.g. Type 1 Diabetes Acceptable and effective treatment protocol? Understand the natural history of the disease being tested for? A reliable screening test – both for affected and unaffected individuals? Acceptable to the public? Clear latency period before disease onset?

Aims of the Study? 1. Do parents feel that they were adequately consented for the heel-prick testing of their newborn baby? 2. To what extent are parents satisfied with the follow up communication and care that they received as part of the UK Newborn Screening Programme? 3. What do parents think about incorporating susceptibility testing for a range of common conditions for example heart disease, diabetes and cancer into the Newborn Screening Programme?

Method Paper survey Pilot study performed, n=6 Different question styles – open, closed, Likert scale Selection criteria – children <5 years Sample size – pragmatic approach Recruitment process

Response 4 nurseries 1 mother/baby toddler group 250 questionnaires handed out 80 returned

CONSENT AND INFORMATION

Were Parents Aware of Their Right to Decide Over Testing? What Percentage of Respondents Remember Giving Permission for the Heel-Prick Test?

Did People Feel Consent Was Needed for the Current Heel-Prick Test?

Did People Think the Heel-Prick Test is 100% Accurate? National Screening Committee Leaflet available online at newbornbloodspot.screening.nhs.uk/

Information Sources

Susceptibility Testing

Parental Opinion: Testing Babies Levels of Disease Risk

Parental Opinion Testing Babies Age of Disease Onset

Parent Opinion Testing Babies Untreatable Conditions?

Etchegary H et al, 2010  Paper survey, n=648, 2010  High levels of interest in testing for specific disorders regardless of whether effective treatment existed, or age of onset  93% parents felt informed consent should be obtained before NBS  Parents’ Reasoning: - opportunity to prepare for any special needs - fundamental right to access any and all health information about their children

 Online survey, n=219, 2011  Majority - benefits of susceptibility testing outweigh risks.  All parents were educated about risk and ethical implications when offered testing for themselves, yet despite this parents offered testing were more inclined to have their child tested.  Parents more readily anticipated the positives of testing versus any negatives. Tercyak KP et al, 2011

Conclusion Summary Informed consent remains important to parents Lack of parental knowledge despite 86% receiving information Expansion of NBS to include testing for future diseases irrespective of age of onset, level of susceptibility and lack of treatment options appears to be supported by the majority of parents

Future Implications Improve parental knowledge - ethical and social concerns of testing Health care professionals should anticipate the high level of interest shown by parents on the subject and perhaps prepare to facilitate discussion on the virtues of such testing.

Acknowledgments Thank-you to the following people who have helped me with my study: Dr Angela Fenwick Prof. Anneke Lucassen Nurseries and play-group Parents that responded to the survey

References 1. Etchegary H et al Interest in Newborn Genetic Screening: A Survey of Prospective Parents and the General Public. Genet Test Mol Tercyak KP. Parents Attitudes Toward Paediatric Genetic testing For Common Disease Risk. Paediatrics. May 2011