Family history intake: a challenge to personalized approaches in health promotion and disease prevention

Endevelt, Ronit; Goren, Iris; Sela, Tal; Shalev, Varda

doi:10.1186/s13584-015-0055-2

Cited by 11 publications

(5 citation statements)

References 24 publications

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“…None of the 6 individuals with the HOXB13 c.251G>A variant reported family or medical history of prostate cancer. Cardiovascular diseases, hypertension, and diabetes were the most frequent family history documentation in the health system (37). From our data, the fraction of genotype and phenotype associations from family history ranged from 24 to 57% in dyslipidemia, cardiomyopathy and arrhythmia, diabetes, and endocrine diseases, and our deep phenotype tests detected clinical and preclinical presentations, further enhancing the clinical diagnosis of genetic disorders in adults (Fig.…”

Section: Discussionsupporting

confidence: 51%

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging

Hou

Martin

et al. 2020

Proc. Natl. Acad. Sci. U.S.A.

101

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Genome sequencing has established clinical utility for rare disease diagnosis. While increasing numbers of individuals have undergone elective genome sequencing, a comprehensive study surveying genome-wide disease-associated genes in adults with deep phenotyping has not been reported. Here we report the results of a 3-y precision medicine study with a goal to integrate wholegenome sequencing with deep phenotyping. A cohort of 1,190 adult participants (402 female [33.8%]; mean age, 54 y [range 20 to 89+]; 70.6% European) had whole-genome sequencing, and were deeply phenotyped using metabolomics, advanced imaging, and clinical laboratory tests in addition to family/medical history. Of 1,190 adults, 206 (17.3%) had at least 1 genetic variant with pathogenic (P) or likely pathogenic (LP) assessment that suggests a predisposition of genetic risk. A multidisciplinary clinical team reviewed all reportable findings for the assessment of genotype and phenotype associations, and 137 (11.5%) had genotype and phenotype associations. A high percentage of genotype and phenotype associations (>75%) was observed for dyslipidemia (n = 24), cardiomyopathy, arrhythmia, and other cardiac diseases (n = 42), and diabetes and endocrine diseases (n = 17). A lack of genotype and phenotype associations, a potential burden for patient care, was observed in 69 (5.8%) individuals with P/LP variants. Genomics and metabolomics associations identified 61 (5.1%) heterozygotes with phenotype manifestations affecting serum metabolite levels in amino acid, lipid and cofactor, and vitamin pathways. Our descriptive analysis provides results on the integration of whole-genome sequencing and deep phenotyping for clinical assessments in adults.genomics | advanced imaging | precision medicine | deep phenotyping | metabolomics

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Section: Discussionsupporting

confidence: 51%

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging

Hou

Martin

et al. 2020

Proc. Natl. Acad. Sci. U.S.A.

101

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“…This is a relatively high frequency of recording when compared with similar research, other than one study which found 97% of EMRs contained FH information. 19 Two recent studies found that 12% and 56.6% of primary care records contained FH information respectively, 10 , 32 although the comparisons are limited by the differing settings. In the most comparable general/family practice setting, Rafi et al found 39.3% of EMRs contained FH information.…”

Section: Discussionmentioning

confidence: 99%

“…Similar methodology had been employed in previous studies. 10 , 19 , 23 We defined our own three discrete measures to subcategorize the standard of FH recording. The frequency of FH recording, how often any FH information was recorded—positive or negative.…”

Section: Methodsmentioning

confidence: 99%

“… 28 FH RCs automatically appear on the SystmOne summary screen which displays the most pertinent patient information when first accessing a record. As in a similar study 10 and in large databases (e.g. Clinical Practice Research Datalink), free text and non-FH RCs were not included as this information was less readily available for a working GP.…”

Section: Methodsmentioning

confidence: 99%

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Family history recording in UK general practice: the lIFeLONG study

2021

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Background In order to integrate genomic medicine into routine patient care and stratify personal risk, it is increasingly important to record family history (FH) information in general/family practice records. This is true for classic genetic disease as well as multifactorial conditions. Research suggests that FH recording is currently inadequate. Objectives To provide an up-to-date analysis of the frequency, quality, and accuracy of FH recording in UK general/family practice. Methods An exploratory study, based at St Leonard’s Practice, Exeter—a suburban UK general/family practice. Selected adult patients registered for over 1 year were contacted by post and asked to complete a written FH questionnaire. The reported information was compared with the patients’ electronic medical record (EMR). Each EMR was assessed for its frequency (how often information was recorded), quality (the level of detail included), and accuracy (how closely the information matched the patient report) of FH recording. Results Two hundred and forty-one patients were approached, 65 (27.0%) responded and 62 (25.7%) were eligible to participate. Forty-three (69.4%) EMRs contained FH information. The most commonly recorded conditions were bowel cancer, breast cancer, diabetes, and heart disease. The mean quality score was 3.64 (out of 5). There was little negative recording. 83.2% of patient-reported FH information was inaccurately recorded or missing from the EMRs. Conclusion FH information in general/family practice records should be better prepared for the genomic era. Whilst some conditions are well recorded, there is a need for more frequent, higher quality recording with greater accuracy, especially for multifactorial conditions.

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“…10 Self-reported histories can be limited, inaccurate, or static. 11,12 Patients often relay information in an unprepared manner during an office visit. 13 Physicians admit they lack the knowledge to assess risk for diseases based on family history.…”

Section: Introductionmentioning

confidence: 99%

Comparison of a Focused Family Cancer History Questionnaire to Family History Documentation in the Electronic Medical Record

Clift

Macklin-Mantia

Barnhorst

et al. 2022

J Prim Care Community Health

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Introduction: Family health history can be a valuable indicator of risk to develop certain cancers. Unfortunately, patient self-reported family history often contains inaccuracies, which might change recommendations for cancer screening. We endeavored to understand the difference between a patient’s self-reported family history and their electronic medical record (EMR) family history. One aim of this study was to determine if family history information contained in the EMR differs from patient-reported family history collected using a focused questionnaire. Methods: We created the Hereditary Cancer Questionnaire (HCQ) based on current guidelines and distributed to 314 patients in the Department of Family Medicine waiting room June 20 to August 1, 2018. The survey queried patients about specific cancers within their biological family to assess their risk of an inherited cancer syndrome. We used the questionnaire responses as a baseline when comparing family histories in the medical record. Results: Agreement between the EMR and the questionnaire data decreased as the patients’ risk for familial cancer increased. Meaning that the more significant a patient’s family cancer history, the less likely it was to be recorded accurately and consistently in the EMR. Patients with low-risk levels, or fewer instances of cancer in the family, had more consistencies between the EMR and the questionnaire. Conclusions: Given that physicians often make recommendations on incomplete information that is in the EMR, patients might not receive individualized preventive care based on a more complete family cancer history. This is especially true for individuals with more complicated and significant family history of cancer. An improved method of collecting family history, including increasing patient engagement, may help to decrease this disparity.

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Family history intake: a challenge to personalized approaches in health promotion and disease prevention

Cited by 11 publications

References 24 publications

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging

Family history recording in UK general practice: the lIFeLONG study

Comparison of a Focused Family Cancer History Questionnaire to Family History Documentation in the Electronic Medical Record

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