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

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 IssuesFor Current Tests & Susceptibility Tests

• Benefits and Harms

• Autonomy – parental and child

• Cost-effectiveness

‘‘newborn screening should be mandatory and free of charge if earlydiagnosis and treatment will benefit the newborn’’.

Current Need for Consent?

National Screening Committee Leaflet available online at newbornbloodspot.screening.nhs.uk/

WHO GUIDELINES Current TestsE.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

2007 2008 2009 2010 2011 20120

5

10

15

20

25

Figure 1: Age Distribution of Children Belonging to Respondents

Year of Child Birth

Coun

t

14%

86%

Figure 2: Pie Chart to Show Gender Balance of Respondents

Male Female

CONSENT AND INFORMATION

Not Aware

Aware

0 10 20 30 40 50 60 70

32

68

Percentage of Respondents

Were Parents Aware of Their Right to Decide

Over Testing?

Yes

No

0 10 20 30 40 50 60 70 80 90

84

16

Percentage of Respondents

What Percentage of Respondents Remember Giving Permission for the

Heel-Prick Test?

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

No

Yes

0 10 20 30 40 50 60 70

33

67

Percentage of Respondents

Did People Think the Heel-Prick Test is 100% Accurate?

100% Accurate

<100% Accurate

0 10 20 30 40 50 60 70

31

69

Percentage of Respondents

National Screening Committee Leaflet available online at newbornbloodspot.screening.nhs.uk/

Midwife Hospital Staff

Leaflet Personal Child

Health Record

Antenatal Class

GP Internet Other0

10

20

30

40

50

60

70

Sources of Information About NBS

Perc

enta

ge o

f Res

pond

ents

Information Sources

Susceptibility Testing

Strongly Disagree

Disagree

Not Sure

Agree

Strongly Agree

0 5 10 15 20 25 30 35 40 45

7

8

13

30

42

9

13

24

29

25

Testing to Discover Whether Child Is at Slightly More Risk* of Developing Certain Types of Cancer

Testing to Discover Whether Child Is at Much Greater Risk* of Developing Certain Types of Cancer

Percentage of Parents

Pare

ntal

Opi

nion

Parental Opinion:Testing Babies

Levels of Disease Risk

Parental Opinion Testing Babies

Age of Disease Onset

Strongly Disagree

Disagree

Not Sure

Agree

Strongly Agree

0 5 10 15 20 25 30 35 40 45 50

1

0

12

40

47

3

8

24

36

30

Testing Babies for Conditions That Don't Appear Until Young Adulthood

Testing Babies for Conditions that Ap-pear in Childhood

Percentage of Parents

Pare

ntal

Opi

nion

Disagree; 14%

Not Sure; 32%Agree; 54%

Parent OpinionTesting Babies

Untreatable Conditions?

Etchegary H et al, 2010

Paper survey, n=648, 2010High levels of interest in testing for specific disorders regardless of whether effective treatment existed, or age of onset93% parents felt informed consent should be obtained before NBSParents’ Reasoning:- opportunity to prepare for any special needs- fundamental right to access any and all health information about their children

Online survey, n=219, 2011Majority - 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 2011

2. Tercyak KP. Parents Attitudes Toward Paediatric Genetic testing For Common Disease Risk. Paediatrics. May 2011