Background: Evidence of the value of systematically collecting family history in primary care is limited.
Objective: To evaluate the feasibility of systematically collecting family history of coronary heart disease in primary care and the effect of incorporating these data into cardiovascular risk assessment.
Design: Pragmatic, matched-pair, cluster randomized, controlled trial. (International Standardized Randomized Controlled Trial Number Register: ISRCTN 17943542).
Setting: 24 family practices in the United Kingdom.
Participants: 748 persons aged 30 to 65 years with no previously diagnosed cardiovascular risk, seen between July 2007 and March 2009.
Intervention: Participants in control practices had the usual Framingham-based cardiovascular risk assessment with and without use of existing family history information in their medical records. Participants in intervention practices also completed a questionnaire to systematically collect their family history. All participants were informed of their risk status. Participants with high cardiovascular risk were invited for a consultation.
Measurements: The primary outcome was the proportion of participants with high cardiovascular risk (10-year risk _20%). Other measures included questionnaire completion rate and anxiety score. 
Results: 98% of participants completed the family history questionnaire. The mean increase in proportion of participants classified as having high cardiovascular risk was 4.8 percentage points in the intervention practices, compared with 0.3 percentage point in control practices when family history from patient records was incorporated. The 4.5–percentage point difference between groups (95% CI, 1.7 to 7.2 percentage points) remained significant after adjustment for participant and practice characteristics (P _ 0.007). Anxiety scores were similar between groups.
Limitations: Relatively few participants were from ethnic minority or less-educated groups. The potential to explore behavioral change and clinical outcomes was limited. Many data were missing for anxiety scores.
Conclusion: Systematically collecting family history increases the proportion of persons identified as having high cardiovascular risk for further targeted prevention and seems to have little or no effect on anxiety.

Effect of Adding Systematic Family History Enquiry to Cardiovascular Disease Risk Assessment in Primary Care A Matched-Pair, Cluster Randomized Trial

A family history, reflecting genetic susceptibility as well as shared environmental and behavioral factors, is an important risk factor for common chronic multifactorial diseases such as cardiovascular diseases, type 2 diabetes and many cancers. The purpose of the present paper is to discuss the evidence for the use of family history as a tool for primary prevention of common chronic diseases, in particular for tailored interventions aimed at promoting healthy lifestyles. The following questions are addressed: (1) What is the value of family history information as a determinant of personal disease risk?; (2)How can family history information be used to motivate at-risk individuals to adopt and maintain healthy lifestyles in order to prevent disease?; and (3) What additional studies are needed to assess the potential value of family history information as a tool to promote a healthy lifestyle? In addition to risk assessment, family history information can be used to personalize health messages, which are potentially more effective in promoting healthy lifestyles than standardized health messages. More research is needed on the evidence for the effectiveness of such a tool.

/pdf/using-family-history-information-to-promote-healthy-4cxahvzy19.pdf

Using family history information to promote healthy lifestyles and prevent diseases; a discussion of the evidence.

Direct-to-consumer (DTC) genetic tests have aroused controversy. Critics have argued many of the tests are not backed by scientific evidence, misguide their customers and should be regulated more stringently. Proponents suggest that finding out genetic susceptibilities for diseases could encourage healthier behaviours and makes the results of genetics research available to the public. This paper reviews the state of play in DTC genetic testing, focusing on tests identifying susceptibilities for lifestyle-related diseases. It will start with mapping the market for the tests. The paper will review (1) research on the content of the online marketing of DTC tests, (2) studies on the effects of DTC genetic tests on customers and (3) academic and policy proposals on how to regulate the tests. Current studies suggest that the marketing of DTC genetic tests often exaggerates their predictive powers, which could misguide consumers. However, research indicates that the tests do not seem to have major negative effects (worry and confusion) but neither do they engender positive effects (lifestyle change) on current users. Research on regulation of the tests has most commonly suggested regulating the marketing claims of the companies. In conclusion, the risks and benefits of DTC genetic tests are less significant than what has been predicted by critics and proponents, which will be argued reflects broader historical trends transforming health and medicine.

/pdf/state-of-play-in-direct-to-consumer-genetic-testing-for-3s7w2pvqv3.pdf

State of play in direct-to-consumer genetic testing for lifestyle-related diseases: market, marketing content, user experiences and regulation

Background: The potential to use data on family history of premature disease to assess disease risk is increasingly recognised, particularly in scoring risk for coronary heart disease (CHD). However the quality of family health information in primary care records is unclear.
Aim: To assess the availability and quality of family history of CHD documented in electronic primary care records Design: Cross-sectional study
Setting: 537 UK family practices contributing to The Health Improvement Network database.
Method: Data were obtained from patients aged 20 years or more, registered with their current practice between 1st January 1998 and 31st December 2008, for at least one year. The availability and quality of recorded CHD family history was assessed using multilevel logistic and ordinal logistic regression respectively.
Results: In a cross-section of 1,504,535 patients, 19% had a positive or negative family history of CHD recorded. Multilevel logistic regression showed patients aged 50–59 had higher odds of having their family history recorded compared to those aged 20–29 (OR:1.23 (1.21 to 1.25)), however most deprived patients had lower odds compared to those least deprived (OR: 0.86 (0.85 to 0.88)). Of the 140,058 patients with a positive family history recorded (9% of total cohort), age of onset was available in 45%; with data specifying both age of onset and relative affected available in only 11% of records. Multilevel ordinal logistic regression confirmed no statistical association between the quality of family history recording and age, gender, deprivation and year of registration.
Conclusion: Family history of CHD is documented in a small proportion of primary care records; and where positive family history is documented the details are insufficient to assess familial risk or populate cardiovascular risk assessment tools. Data capture needs to be improved particularly for more disadvantaged patients who may be most likely to benefit from CHD risk assessment.

Availability and Quality of Coronary Heart Disease Family History in Primary Care Medical Records: Implications for Cardiovascular Risk Assessment

BACKGROUND Increased availability of genetic testing is changing the primary care role in cancer genetics. The perspective of primary care physicians (PCPs) regarding their role in support of genetic testing has been explored, but little is known about the expectations of patients or the PCP role once genetic test results are received. METHODS Two sets of open-ended semi-structured interviews were completed with patients (N=25) in a cancer genetic programme in Ontario, Canada, within 4 months of receiving genetic test results and 1 year later; written reports of test results were collected. RESULTS Patients expected PCPs to play a role in referral for genetic testing; they hoped that PCPs would have sufficient knowledge to appreciate familial risk and supportive attitudes towards genetic testing. Patients had more difficulty in identifying a PCP role following receipt of genetic test results; cancer patients in particular emphasized this as a role for cancer specialists. Still, some patients anticipated an ongoing PCP role comprising risk-appropriate surveillance or reassurance, especially as specialist care diminished. These expectations were complicated by occasional confusion regarding the ongoing care appropriate to genetic test results. CONCLUSIONS The potential PCP role in cancer genetics is quite broad. Patients expect PCPs to play a role in risk identification and genetics referral. In addition, some patients anticipated an ongoing role for their PCPs after receiving genetic test results. Sustained efforts will be needed to support PCPs in this expansive role if best use is to be made of investments in cancer genetic services.

/pdf/the-primary-care-physician-role-in-cancer-genetics-a-2cyt2q9j6m.pdf

The primary care physician role in cancer genetics: a qualitative study of patient experience.

Background. Current primary prevention guidelines recommend the assessment of family history of coronary heart disease (CHD) to identify at-risk individuals.Objective. To examine how clinicians and patients understand and communicate family history in the context of CHD risk assessment in primary care.Methods. A qualitative study. Patients completed a validated family history questionnaire. Consultations with clinicians were video recorded, and semi-structured interviews conducted with patients after consultation. The participants were 21 primary care patients and seven primary care clinicians (two practice nurses, five GPs). Four practices in South West England.Results. Patients and clinicians usually agreed about the patient's level of risk and how to reduce it. Patients were mostly satisfied with their consultations and having their family history assessed. However, three issues were identified from the consultations which contributed to concerns and unanswered questions for patients. Problems arose when there were few modifiable risk factors to address. Firstly, patients' explanations of their family history were not explored in the consultation. Secondly, the relationship between the patient's family history and their other risk factors, such as smoking or cholesterol, was rarely discussed. Thirdly, clinicians did not explain the integration of family history into the patient's overall cardiovascular disease risk.Conclusions. Clinicians appeared to lack a rhetoric to discuss family history, in terms of capturing both genetic and environmental factors and its relation to other risk factors. This created uncertainties for patients and carries potential clinical and social implications. There is a need for better guidance for primary care clinicians about family history assessment.

/pdf/assessing-family-history-of-heart-disease-in-primary-care-1ohtdf2739.pdf

Assessing family history of heart disease in primary care consultations: a qualitative study

In 2019, Ontario’s Ministry of Health launched Ontario Health Teams (OHTs), an ambitious initiative that seeks to ensure that all health care organizations, providers and patients across the province are connected to an integrated team with responsibility for eventually providing all healthcare services for a specific population. Our team was tasked with evaluating OHTs in the context of a landscape transformed by systemic restructuring, shifting healthcare policies and shaped by the COVID19 pandemic. We set out our approach to evaluation in response to this evolving landscape.

http://www.ijic.org/articles/10.5334/ijic.ICIC21255/galley/7567/download/

Ruth Hall

Papers

Assessing family history of heart disease in primary care consultations: a qualitative study

Designing an approach to evaluation in a complex environment: How the evaluation of Ontario Health Teams adapted to a changing landscape