Free Standard AU & NZ Shipping For All Book Orders Over $80!
Register      Login
Journal of Primary Health Care Journal of Primary Health Care Society
Journal of The Royal New Zealand College of General Practitioners
RESEARCH ARTICLE (Open Access)

‘I think we just do it once and leave it …’ The collection and utility of family health history in general practice in Aotearoa New Zealand: a qualitative study

R. Jefferies 1 , P. Wilcox 2 , K. Paringatai 3 , M. Stubbe https://orcid.org/0000-0002-6661-908X 4 , R. Grainger https://orcid.org/0000-0001-9201-8678 5 , A. Dowell https://orcid.org/0000-0003-0131-117X 4 , S. K. Filoche https://orcid.org/0000-0002-0874-6494 1 *
+ Author Affiliations
- Author Affiliations

1 Department of Obstetrics, Gynaecology & Women’s Health, University of Otago, Wellington, Aotearoa New Zealand.

2 Department of Mathematics and Statistics, University of Otago, Dunedin, Aotearoa New Zealand.

3 Te Tumu, School of Māori, Pacific and Indigenous Studies, University of Otago, Dunedin, Aotearoa New Zealand.

4 Department of Primary Health Care and General Practice, University of Otago, Wellington, Aotearoa New Zealand.

5 Department of Medicine, University of Otago, Wellington, Aotearoa New Zealand.

* Correspondence to: sara.filoche@otago.ac.nz

Handling Editor: Tim Stokes

Journal of Primary Health Care 16(1) 33-40 https://doi.org/10.1071/HC23055
Submitted: 16 May 2023  Accepted: 11 September 2023  Published: 13 October 2023

© 2024 The Author(s) (or their employer(s)). Published by CSIRO Publishing on behalf of The Royal New Zealand College of General Practitioners. This is an open access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND)

Abstract

Introduction

The value of family health history as a means to understanding health risk has been long known. Its value in a precision medicine context is also now becoming apparent. General practitioners (GPs) are considered to play a key role in the collection, and investigation, of family health history, but it remains widely reported as being both poorly and infrequently undertaken. Little is known about this practice in Aotearoa New Zealand (NZ).

Aim

This study aimed to explore current practices in relation to the ascertainment of family health history, with a view towards precision medicine.

Methods

Semi-structured interviews were conducted with 10 GPs recruited from one urban area of NZ. The interviews were subjected to a thematic analysis.

Results

Family health history information was used to varying degrees in four areas – risk ascertainment, patient engagement with a diagnosis, social context and building relationships. Patient cultural considerations were rarely mentioned. Reliability of information provided by patients, resource constraints, context driven consults and electronic health record limitations are potential indicators of current limits of family health history.

Discussion

Our findings present a baseline of current practice and echo larger studies from overseas. As precision medicine is not yet routine, a unique opportunity exists for consideration to be given to establishing specific roles within the NZ health system to enable equitable practice of, and subsequent health gains from, the use of family/whānau health history information as part of precision medicine.

Keywords: collection, equity, family/whānau health history information, General Practitioners, precision health, precision medicine, primary health care, utility.

References

Ginsburg GS, Wu RR, Orlando LA. Family health history: underused for actionable risk assessment. Lancet 2019; 394(10198): 596-603.
| Crossref | Google Scholar | PubMed |

Khoury MJ, Feero WG, Valdez R. Family history and personal genomics as tools for improving health in an era of evidence-based medicine. Am J Prev Med 2010; 39(2): 184-8.
| Crossref | Google Scholar | PubMed |

Saul RA, Trotter T, Sease K, et al. Survey of family history taking and genetic testing in pediatric practice. J Community Genet 2017; 8(2): 109-15.
| Crossref | Google Scholar | PubMed |

Guttmacher AE, Collins FS, Carmona RH. The family history — more important than ever. N Engl J Med 2004; 351(22): 2333-6.
| Crossref | Google Scholar | PubMed |

Haga SB, Orlando LA. The enduring importance of family health history in the era of genomic medicine and risk assessment. Pers Med 2020; 17(3): 229-39.
| Crossref | Google Scholar | PubMed |

Truong B, Zhou X, Shin J, et al. Efficient polygenic risk scores for biobank scale data by exploiting phenotypes from inferred relatives. Nat Commun 2020; 11(1): 3074.
| Crossref | Google Scholar | PubMed |

Bylstra Y, Lim WK, Kam S, et al. Family history assessment significantly enhances delivery of precision medicine in the genomics era. Genome Med 2021; 13(1): 3.
| Crossref | Google Scholar | PubMed |

Bennett RL. Family health history: the first genetic test in precision medicine. Med Clin North Am 2019; 103(6): 957-66.
| Crossref | Google Scholar | PubMed |

10  Carroll JC, Allanson J, Morrison S, et al. Informing integration of genomic medicine into primary care: an assessment of current practice, attitudes, and desired resources. Front Genet 2019; 10: 1189.
| Crossref | Google Scholar | PubMed |

11  Tognetto A, Michelazzo MB, Ricciardi W, et al. Core competencies in genetics for healthcare professionals: results from a literature review and a Delphi method. BMC Med Educ 2019; 19(1): 19.
| Crossref | Google Scholar | PubMed |

12  Royal Australian College of General Practitioners. Genomics in General Practice. East Melbourne, Vic.; 2022. available at https://www.racgp.org.au/getattachment/a7b97d5a-5b5f-4d4b-ab3b-efa9c08b1d6d/Genomics‐in‐general‐practice.aspx

13  Genomics Education Programme. Competency frameworks. UK. Available at https://www.genomicseducation.hee.nhs.uk/competency-frameworks/

14  Wildin RS, Messersmith DJ, Houwink EJF. Modernizing family health history: achievable strategies to reduce implementation gaps. J Community Genet 2021; 12(3): 493-6.
| Crossref | Google Scholar | PubMed |

15  Ministry of Health. Precision health: Exploring opportunities and challenges to predict, prevent, diagnose, and treat disease more precisely in Aotearoa New Zealand: Public consultation on a topic for a Long-term Insights Briefing. Wellington: Ministry of Health. November 2022.

16  Braun V, Clarke V. Using thematic analysis in psychology. Qual Res Psychol 2006; 3(2): 77-101.
| Crossref | Google Scholar |

17  Daelemans S, Vandevoorde J, Vansintejan J, et al. The use of family history in Primary Health Care: a qualitative study. Adv Prev Med 2013; 2013: 695763.
| Crossref | Google Scholar | PubMed |

18  Taber P, Ghani P, Schiffman JD, et al. Physicians’ strategies for using family history data: having the data is not the same as using the data. JAMIA Open 2020; 3(3): 378-85.
| Crossref | Google Scholar | PubMed |

19  Dineen M, Sidaway-Lee K, Pereira Gray D, et al. Family history recording in UK general practice: the lIFeLONG study. Fam Pract 2022; 39(4): 610-5.
| Crossref | Google Scholar | PubMed |

20  Mathers J, Greenfield S, Metcalfe A, et al. Family history in primary care: understanding GPs’ resistance to clinical genetics — qualitative study. Br J Gen Pract 2010; 60(574): e221-30.
| Crossref | Google Scholar | PubMed |

21  Williams JL, Collingridge DS, Williams MS. Primary care physicians’ experience with family history: an exploratory qualitative study. Genet Med 2011; 13(1): 21-5.
| Crossref | Google Scholar | PubMed |

22  Augustinsson A, Ellberg C, Kristoffersson U, et al. Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer. Acta Oncol 2018; 57(5): 595-603.
| Crossref | Google Scholar | PubMed |

23  Lin J, Myers MF, Koehly LM, et al. A Bayesian hierarchical logistic regression model of multiple informant family health histories. BMC Med Res Methodol 2019; 19(1): 56.
| Crossref | Google Scholar | PubMed |

24  Murray MF, Giovanni MA, Klinger E, et al. Comparing electronic health record portals to obtain patient-entered family health history in primary care. J Gen Intern Med 2013; 28(12): 1558-64.
| Crossref | Google Scholar | PubMed |

25  Campbell-Salome G, Rauscher EA, Freytag J. Patterns of communicating about family health history: exploring differences in family types, age, and sex. Health Educ Behav 2019; 46(5): 809-17.
| Crossref | Google Scholar | PubMed |

26  Hong SJ. Gendered cultural identities: the influences of family and privacy boundaries, subjective norms, and stigma beliefs on family health history communication. Health Commun 2018; 33(8): 927-38.
| Crossref | Google Scholar | PubMed |

27  Hong SJ. Cross-cultural differences in the influences of spiritual and religious tendencies on beliefs in genetic determinism and family health history communication: a teleological approach. J Relig Health 2019; 58(5): 1516-36.
| Crossref | Google Scholar | PubMed |

28  McGrath BB, Edwards KL. When family means more (or less) than genetics: the intersection of culture, family and genomics. J Transcult Nurs 2009; 20(3): 270-7.
| Crossref | Google Scholar | PubMed |

29  Thompson T, Seo J, Griffith J, et al. The context of collecting family health history: examining definitions of family and family communication about health among African American women. J Health Commun 2015; 20(4): 416-23.
| Crossref | Google Scholar | PubMed |

30  Ziegelstein RC. Perspectives in Primary Care: knowing the patient as a person in the precision medicine era. Ann Fam Med 2018; 16(1): 4-5.
| Crossref | Google Scholar | PubMed |

31  Dheensa S, Fenwick A, Lucassen A. ‘Is this knowledge mine and nobody else’s? I don’t feel that.’ Patient views about consent, confidentiality and information-sharing in genetic medicine. J Med Ethics 2016; 42(3): 174-9.
| Crossref | Google Scholar | PubMed |

32  Kent A. Consent and confidentiality in genetics: whose information is it anyway? J Med Ethics 2003; 29(1): 16-8.
| Crossref | Google Scholar | PubMed |

33  Grebe TA, Khushf G, Chen M, et al. The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2020; 22(9): 1431-6.
| Crossref | Google Scholar | PubMed |

34  Sanghavi K, Moses I, Moses D, et al. Family health history and genetic services—the East Baltimore community stakeholder interview project. J Community Genet 2019; 10(2): 219-27.
| Crossref | Google Scholar | PubMed |

35  Brett GR, Ward A, Bouffler SE, et al. Co-design, implementation, and evaluation of plain language genomic test reports. NPJ Genom Med 2022; 7(1): 61.
| Crossref | Google Scholar | PubMed |

36  Prom-Wormley EC, Clifford JS, Bourdon JL, et al. Developing community-based health education strategies with family history: assessing the association between community resident family history and interest in health education. Soc Sci Med 2021; 271: 112160.
| Crossref | Google Scholar | PubMed |

37  Ministry of Health. Hira (National health information platform). 2021. Available at https://www.health.govt.nz/our-work/digital-health/other-digital-health-initiatives/hira-national-health-information-platform

38  Te Mana Raraunga. What is Māori Data Sovereignty? Available at https://www.temanararaunga.maori.nz/

39  Ministry of Health. Aotearoa’s digital health identity. 2023. Available at https://identity.health.nz/

40  Port RV, Arnold J, Kerr D, et al. Cultural enhancement of a clinical service to meet the needs of indigenous people; genetic service development in response to issues for New Zealand Maori. Clin Genet 2008; 73(2): 132-8.
| Crossref | Google Scholar | PubMed |

41  Tupara H. Ethics and health research: decision making in Aotearoa New Zealand. AJOB Prim Res 2012; 3(4): 40-52.
| Crossref | Google Scholar |

42  Cornwall J, English S, Woodford B, et al. An exploration of Aotearoa New Zealander’s attitudes and perceptions on the use of posthumous healthcare data. N Z Med J 2022; 135(1554): 44-54.
| Google Scholar | PubMed |

43  Takeshima T, Okayama M, Ae R, et al. Influence of family history on the willingness of outpatients to undergo genetic testing for salt-sensitive hypertension: a cross-sectional study. BMJ Open 2017; 7(7): e016322.
| Crossref | Google Scholar | PubMed |