Original Research Article | Published:

Tell me once, tell me soon: parents’ preferences for clinical genetics services for congenital heart disease

Genet Med | Download Citation




As the molecular basis of congenital heart disease (CHD) comes into sharper focus, cardiac genetics services are likely to play an increasingly important role. This study aimed to identify parents’ preferences for, and willingness to participate in, clinical genetics services for CHD.


A discrete choice experiment was developed to assess parents’ preferences for pediatric cardiogenetics services based on four attributes: appointment format, health professionals involved, waiting time, and information format. Data were analyzed using a mixed logit model.


One hundred parents with a living child diagnosed with CHD requiring surgical intervention between 2000 and 2009 completed the discrete choice experiment. Parents expressed a clear preference for cardiac genetics services featuring (i) a single appointment, (ii) the presence of a clinical geneticist and a genetic counselor, (iii) both verbal (oral) and Web-based information about CHD and genetics, and (iv) availability of an appointment within 2 weeks. If offered such conditions, 93% of respondents indicated that they would attend. The choice of service was most strongly influenced by the presence of both a clinical geneticist and a genetic counselor.


Parents of children with CHD favor a single, timely genetics appointment with both a geneticist and a genetic counselor present. If appointments offered match these preferences, uptake is likely to be high.

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N.A.K. is the recipient of a National Heart Foundation of Australia Future Leader Fellowship (101229). We very gratefully acknowledge Stephanie Knox for her contribution to DCE design and Stephen Cooper, David Murphy, Christoph Camphausen, Owen Jones, Blake Fidock, and Ritik Kaul for assistance with data collection.

Author information

Author notes

    • Nadine A Kasparian
    •  & Richard De Abreu Lourenco

    The first two authors are co–first authors.


  1. Discipline of Paediatrics, School of Women’s and Children’s Health, UNSW Medicine, The University of New South Wales, Sydney, New South Wales, Australia

    • Nadine A Kasparian
    •  & Edwin P E Kirk
  2. Heart Centre for Children, The Sydney Children’s Hospitals Network (Westmead and Randwick), Sydney, New South Wales, Australia

    • Nadine A Kasparian
    • , David S Winlaw
    •  & Gary F Sholler
  3. Centre for Health Economics Research and Evaluation, University of Technology Sydney, Ultimo, New South Wales, Australia

    • Richard De Abreu Lourenco
    •  & Rosalie Viney
  4. Discipline of Child and Adolescent Health, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia

    • David S Winlaw
    •  & Gary F Sholler
  5. Department of Medical Genetics, Sydney Children’s Hospital, Randwick, New South Wales, Australia

    • Edwin P E Kirk


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Competing interests

The authors declare no conflict of interest.

Corresponding author

Correspondence to Nadine A Kasparian.

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