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Survey of family history taking and genetic testing in pediatric practice

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Abstract

Family health history collection and genetic testing are core elements for the successful translation of genomics into primary care practice. Yet, little is known about how pediatric providers implement these elements in practice. We surveyed the membership of the American Academy of Pediatrics regarding family health history (FHH) collection and genetic testing in the primary care setting. Three hundred forty-nine (349) responses were analyzed with the initial response rate of 43.3%. Four principal findings were noted—(1) family health history is still recognized as a critical part of the medical evaluation; (2) perceived obstacles for FHH are time in obtaining the FHH and concerns about the family’s knowledge of their FHH; (3) a 3-generation family history is out of the scope of routine care and alternate methods should be considered; (4) most primary care providers (PCPs) do not feel comfortable ordering, interpreting, and counseling regarding current genetic testing. Expanded genetic/genomic education at multiple levels (undergraduate medical education, graduate medical education, and maintenance of certification) is clearly indicated to allow PCPs to integrate these vital elements into a current evaluation (acute care or health maintenance) in the primary care setting.

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Abbreviations

AAP:

American Academy of Pediatrics

GPCI:

Genetics in Primary Care Institute

FHH:

Family health history

PCP:

Primary care provider

PS:

Periodic survey

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Acknowledgements

The authors wish to thank Karen O’Connor from the Division of Research of the American Academy of Pediatrics for her valuable assistance with the preparation of the tables, manuscript preparation, and manuscript review.

Contributors’ statements

Robert A. Saul: Dr. Saul assisted in the design of the survey, drafted the initial manuscript, and approved the final manuscript as submitted.

Tracy Trotter: Dr. Trotter critically reviewed the manuscript, revised the manuscript, and approved the final manuscript as submitted.

Kerry Sease: Dr. Sease critically reviewed the manuscript, revised the manuscript, and approved the final manuscript as submitted.

Beth Tarini: Dr. Tarini assisted in the design of the survey, critically reviewed the manuscript, revised the manuscript, and approved the final manuscript as submitted.

All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

Author information

Authors and Affiliations

  1. Center for Pediatric Medicine, Children’s Hospital, Greenville Health System, 20 Medical Ridge Drive, Greenville, SC, 29605, USA

    Robert A. Saul & Kerry Sease

  2. San Ramon Valley Primary Care, San Ramon, CA, USA

    Tracy Trotter

  3. Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IL, USA

    Beth Tarini

Authors
  1. Robert A. Saul
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  2. Tracy Trotter
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  3. Kerry Sease
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  4. Beth Tarini
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Corresponding author

Correspondence to Robert A. Saul.

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Funding source

No funding was secured for this study.

Financial disclosure

The authors (Saul, Trotter, Sease and Tarini) have no financial relationships relevant to this article to disclose.

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Beth Tarini was formerly affiliated to Department of Pediatrics, University of Michigan, Ann Arbor, MI

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Saul, R.A., Trotter, T., Sease, K. et al. Survey of family history taking and genetic testing in pediatric practice. J Community Genet 8, 109–115 (2017). https://doi.org/10.1007/s12687-016-0291-3

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  • DOI: https://doi.org/10.1007/s12687-016-0291-3

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