Genetics in primary care: validating a tool to pre‐symptomatically assess common disease risk using an Australian questionnaire on family history

Houwink, Elisa J. F.; Hortensius, Olga R.; Boven, Kees van; Sollie, Annet; Numans, Mattijs E.

doi:10.1186/s40169-019-0233-x

Cited by 9 publications

(9 citation statements)

References 23 publications

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“…purpose, these patients are invited by their FP to complete a so-called online 'context survey' including personal (demographic) characteristics such as country of birth of the patient and the patients' parents, level of education, working status and working hours, and contextual characteristics such as traumatic life events including abuse (sexual, physical or psychological violence) and intoxications, as well as information on the family history for diabetes, cardiovascular disease and several cancer types. 14 (Appendix 2) Completed surveys are automatically added to patients' EHR and visible for their FP in daily practice. FaMe-Net asks patients to check and update the context surveys on a 2-yearly basis.…”

Section: Contextual and Personal Characteristicsmentioning

confidence: 99%

Purposeful Incorporation of Patient Narratives in the Medical Record in the Netherlands

Luijks¹,

Boven²,

Hartman³

et al. 2021

J Am Board Fam Med

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Introduction: Structuring patient and practice data into episodes formed the foundation of the earliest evidence base of family medicine. We aim to make patients' narratives part of the evidence base for family medicine by incorporating coded and structured information on the patient's reason to visit the family physician (FP) and adding the patient's personal and contextual characteristics to routine registration data. This documentation allows studies of relations between morbidity and elements of the patient story, providing more insight into the range of problems presented to primary care and in the patient-centeredness applied by FPs.Methods: The Dutch Practice-Based Research Network (PBRN), named FaMe-Net, is the world's oldest PBRN. Seven Dutch family practices provide regular primary care and participate in the PBRN. It contains all morbidity data of the approximately 40,000 listed patients (308,000 patient-years and 2.2 million encounters from 2005 until 2019). All information belonging to 1 health problem is ordered in 1 episode. Morbidity (diagnoses), reasons for encounter (RFE), and interventions are coded according to the International Classification of Primary Care (ICPC-2). Registration occurs within the electronic health record (EHR), specially designed to facilitate the extensive registration for the PBRN. Since 2016, the network expanded routine registration with the duration of symptoms and coded personal and contextual characteristics (eg, country of birth, level of education, family history, traumatic events) obtained through the self-reported 'context survey' of listed patients. These data are added to the EHR. Registered data are extracted from the EHR and processed for scientific research.We present data on the differences in RFEs of the most prominent symptoms of COVID-19 between 2019 and 2020; the relation between the diagnosis of pneumonia and presentation of the symptom 'cough,' and how personal determinants influence the chances of final diagnoses. Lastly, we show the relation of selfreported abuse with patient's contact frequency and psychosocial problems.Results: Prompt introduction of registration rules brought insight into COVID-19-related symptoms early in the pandemic. In March 2020, symptoms related to COVID-19 were presented more often than in March 2019. Chronic conditions and prevention showed a collapsing contact frequency. Telephone, email, and video consultations increased from 31% to 53%.Episodes of pneumonia most frequently started with the RFE 'cough.' A combination of 'cough' and 'fever' as RFE increases the likelihood of pneumonia, as does cough in the presence of comorbid COPD among older men. The prevalence of pneumonia is higher among patients with low socioeconomic status.Discussion: The Dutch PBRN FaMe-Net has started to add elements of patients' narratives and context to decades of morbidity registration, creating options for a scientific approach to primary care's core values. Assumptions of 'pre/post chances' of the final diagnosis, already existing implicitl...

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Section: Contextual and Personal Characteristicsmentioning

confidence: 99%

Purposeful Incorporation of Patient Narratives in the Medical Record in the Netherlands

Luijks¹,

Boven²,

Hartman³

et al. 2021

J Am Board Fam Med

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“…A family history of asthma, chronic obstructive pulmonary disease (COPD), diabetes, cardiovascular diseases or various types of cancers (including prostate cancer, ovarian cancer, melanoma, breast cancer and colon cancer) leads to a relative risk for these diseases that is two to five times higher than that of people without a positive family history, irrespective of known genetic associations (e.g., BRCA1/2) [6]. When multiple family members are affected with these common diseases, and when this occurs at a young age, the relative risk increases further [7,8].…”

Section: Combining Family History and Geneticsmentioning

confidence: 99%

“…Recently, a validated family history questionnaire was developed and published and could therefore help integrate genetics into the EHR, leading to the rapid operationalisation of readily available genetic knowledge in daily practice and clinical research, consequently improving medical care [6]. Taking into account that specific subtypes of certain diseases, i.e., COPD, may benefit from a certain treatment while other subtypes of the same disease may have a negative effect from that treatment [14], it is of the utmost importance to perform such phenotypical determinations.…”

Section: Combining Family History and Geneticsmentioning

confidence: 99%

Using Personal Genomic Data within Primary Care: A Bioinformatics Approach to Pharmacogenomics

Overkleeft¹,

Tommel

Evers

et al. 2020

Genes

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One application of personalized medicine is the tailoring of medication to the individual, so that the medication will have the highest chance of success. In order to individualize medication, one must have a complete inventory of all current pharmaceutical compounds (a detailed formulary) combined with pharmacogenetic datasets, the genetic makeup of the patient, their (medical) family history and other health-related data. For healthcare professionals to make the best use of this information, it must be visualized in a way that makes the most medically relevant data accessible for their decision-making. Similarly, to enable bioinformatics analysis of these data, it must be prepared and provided through an interface for controlled computational analysis. Due to the high degree of personal information gathered for such initiatives, privacy-sensitive implementation choices and ethical standards are paramount. The Personal Genetic Locker project provides an approach to enable the use of personal genomic data in primary care. In this paper, we provide a description of the Personal Genetic Locker project and show its utility through a use case based on open standards, which is illustrated by the 4MedBox system.

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“…The power of FHH in the hands of the primary care practitioner is often underestimated. An individual with a family history of diabetes, cardiovascular diseases, or various types of cancer has a 2-to fivefold risk for these diseases relative to one without a positive family history (Guttmacher et al 2004;Houwink et al 2019). When multiple family members are affected with these common diseases, and when this occurs at a young age, the relative risk increases further.…”

Section: Introductionmentioning

confidence: 99%

Modernizing family health history: achievable strategies to reduce implementation gaps

2021

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Family health history (FHH) is a valuable yet underused healthcare tool for assessing health risks for both prevalent disorders like diabetes, cancer, and cardiovascular diseases, and for rare, monogenic disorders. Full implementation of FHH collection and analysis in healthcare could improve both primary and secondary disease prevention for individuals and, through cascade testing, make at risk family members eligible for pre-symptomatic testing and preventative interventions. In addition to risk assessment in the clinic, FHH is increasingly important for interpreting clinical genetic testing results and for research connecting health risks to genomic variation. Despite this value, diverse implementation gaps in clinical settings undermine its potential clinical value and limit the quality of connected health and genomic data. The NHGRI Family Health History Group, an open-membership, US-based group with international members, believes that integrating FHH in healthcare and research is more important than ever, and that achievable implementation advances, including education, are urgently needed to boost the pace of translational utility in genomic medicine. An inventory of implementation gaps and proposed achievable strategies to address them, representing a consensus developed in meetings from 2019-2020, is presented here. The proposed measures are diverse, interdisciplinary, and are guided by experience and ongoing implementation and research efforts.

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Genetics in primary care: validating a tool to pre‐symptomatically assess common disease risk using an Australian questionnaire on family history

Cited by 9 publications

References 23 publications

Purposeful Incorporation of Patient Narratives in the Medical Record in the Netherlands

Purposeful Incorporation of Patient Narratives in the Medical Record in the Netherlands

Using Personal Genomic Data within Primary Care: A Bioinformatics Approach to Pharmacogenomics

Modernizing family health history: achievable strategies to reduce implementation gaps

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