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Journal ArticleDOI

Musings on genome medicine: the value of family history

03 Aug 2009-Genome Medicine (BioMed Central)-Vol. 1, Iss: 8, pp 75-75
TL;DR: It is argued that the routine availability of genome sequence information on individuals will not render family history information obsolete, both because the taking of a family history has other uses for the health professional, and because genome sequence data on their own omit the effects of numerous factors important for modifying risks of disease.
Abstract: Will the routine availability of genome sequence information on individuals render family history information obsolete? I argue that it will not, both because the taking of a family history has other uses for the health professional, and because genome sequence data on their own omit the effects of numerous factors important for modifying risks of disease. These include information derived from factors downstream of genetic variants and from upstream epigenetic effects. Further difficulties arise with uncertainties relating to gene-gene and gene-environment interactions, which may take decades to resolve if their resolution is even possible.

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Citations
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Journal ArticleDOI
Margaret Lock1
TL;DR: Using Alzheimer’s disease as an illustrative example, it is shown how population databases of AD cases on which individual risk estimates are based are faulty due to confusion about the AD phenotype.
Abstract: As genetic tests become cheaper and more readily available, pressure is increasing to routinely test individuals for susceptibility genes for complex common disorders. Using Alzheimer’s disease (AD) as an illustrative example, it is shown how population databases of AD cases on which individual risk estimates are based are faulty due to confusion about the AD phenotype. Furthermore, the APOEe4 genotype associated with increased risk of AD is neither necessary nor sufficient to cause AD. The article concludes with ethnographic findings that result from interviews with individuals who have been tested for their APOE status.

40 citations

Journal ArticleDOI
TL;DR: The question remains how future genetic testing and genomic profiling may be of aid in the therapeutic algorithms related to idiopathic scoliosis.
Abstract: Idiopathic scoliosis is one of the most common complex genetic disorders of the musculoskeletal system. The clinical parameters relating to onset, curve progression, and severity in relation to clinical prognosis and current treatment modalities have been defined, but do not address the cause of this disorder. In an effort to define causative genetic elements, multiple studies have delineated potential genetic loci that are statistically related to idiopathic scoliosis in a variety of populations. The question remains how future genetic testing and genomic profiling may be of aid in the therapeutic algorithms related to this disorder.

29 citations


Cites background from "Musings on genome medicine: the val..."

  • ...In cases of known disease, such as Hodgkins lymphoma and cervical cancer, genomic profiling has had some success in relation to disease prognosis and therapeutic treatment options in those who were earlier diagnosed with the disease.(39,40)...

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Journal ArticleDOI
TL;DR: Although participants thought collecting FHH information was important and had positive reactions to both tools, the majority did not use the tools to write down information and instead collected FHH informally, underline the importance of separating the components of FHH collection behaviors to analyze the steps used in FHH creation.
Abstract: Little is known about African American women’s collection of family health history (FHH) information and use of FHH tools. Most FHH research has investigated tools that use a biomedical paradigm, but other kinds of tools, such as those that include information about family social context, have been developed for use in diverse populations. Using mixed methods, we interviewed 32 African American women about behavioral steps to collecting FHH, family communication about health, and reactions to a biomedical FHH tool. Participants chose one of two FHH tools to take home. A follow-up call three weeks later assessed tool use. Many participants expressed support for writing down FHH information, but at baseline few had done so; most participants who had collected FHH information had done so verbally. Participants reacted positively to the biomedical FHH tool used during the interview, with many saying it allowed them to see patterns in their FHH. At follow-up, 67 % reported using their FHH tool, primarily to promote discussion among family members; only 32 % used the tool to write down FHH information. Although participants thought collecting FHH information was important and had positive reactions to both tools, the majority did not use the tools to write down information and instead collected FHH informally. These findings underline the importance of separating the components of FHH collection behaviors to analyze the steps used in FHH creation. Practitioners should consider additional methods of encouraging patients to create written FHHs in order to share the information with health care providers.

20 citations


Cites background from "Musings on genome medicine: the val..."

  • ...Tools using a biomedical approach, however, may be difficult for lay individuals without specialized genetics knowledge or with limited health literacy (Wang et al. 2011; Kelly and Sweet 2007), due in part to unfamiliar terms and concepts (Clarke 2009; Fuller et al. 2010; Wallace et al. 2009)....

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  • ...2011; Kelly and Sweet 2007), due in part to unfamiliar terms and concepts (Clarke 2009; Fuller et al. 2010; Wallace et al. 2009)....

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Journal ArticleDOI
TL;DR: This paper will review the setting before the guidelines were published, and empiric research and discussion that has occurred since, to best approach the current state of secondary findings in genomic medicine.
Abstract: The American College of Medical Genetics and Genomics (ACMG) recommendations for reporting of incidental (now "secondary") findings in clinical exome and genome sequencing (Green et al., Genet Med 15:565, 2013) is an often cited and sometimes misapplied professional guideline. To best approach the current state of secondary findings (SFs) in genomic medicine, and consider their impact, it is helpful to understand how and why the guideline was created. Of particular importance is the context - the state of the science and clinical practice during 2011-2012 when the guideline were initially developed. This paper will review the setting before the guidelines were published, and empiric research and discussion that has occurred since.

19 citations


Additional excerpts

  • ...…genet‐ ics research and clinical practice (Bick & Dimmock, 2011; Majewski, Schwartzentruber, Lalonde, Montpetit, & Jabado, 2011; Singleton, 2011) and skeptical realism regarding potential challenges (Brunham & Hayden, 2012; Clarke, 2009; Li, 2011; Ormond et al., 2010; Schrijver & Galli, 2012)....

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Journal ArticleDOI
27 Sep 2021-PLOS ONE
TL;DR: In this paper, the authors compared the completeness and accuracy of medical history data collected and recorded by physicians in electronic health records (EHR) with data collected by computerized history-taking (CHT) for patients presenting to an emergency room with acute chest pain.
Abstract: Patients' medical histories are the salient dataset for diagnosis. Prior work shows consistently, however, that medical history-taking by physicians generally is incomplete and not accurate. Such findings suggest that methods to improve the completeness and accuracy of medical history data could have clinical value. We address this issue with expert system software to enable automated history-taking by computers interacting directly with patients, i.e. computerized history-taking (CHT). Here we compare the completeness and accuracy of medical history data collected and recorded by physicians in electronic health records (EHR) with data collected by CHT for patients presenting to an emergency room with acute chest pain. Physician history-taking and CHT occurred at the same ED visit for all patients. CHT almost always preceded examination by a physician. Data fields analyzed were relevant to the differential diagnosis of chest pain and comprised information obtainable only by interviewing patients. Measures of data quality were completeness and consistency of negative and positive findings in EHR as compared with CHT datasets. Data significant for the differential of chest pain was missing randomly in all EHRs across all data items analyzed so that the dimensionality of EHR data was limited. CHT files were near complete for all data elements reviewed. Separate from the incompleteness of EHR data, there were frequent factual inconsistencies between EHR and CHT data across all data elements. EHR data did not contain representations of symptoms that were consistent with those reported by patients during CHT. Trial registration: This study is registered at https://www.clinicaltrials.gov (unique identifier: NCT03439449).

5 citations

References
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Journal ArticleDOI
TL;DR: In high-risk families, women who test negative for the familial BRCA1/BRCA2 mutation have an increased risk of breast cancer consistent with genetic modifiers, and should still be considered for continued surveillance.
Abstract: Background: The identification of BRCA1 and BRCA2 mutations in familial breast cancer kindreds allows genetic testing of at-risk relatives. Those who test negative are usually reassured and additional breast cancer surveillance is discontinued. However, we postulated that in high-risk families, such as those seen in clinical genetics centres, the risk of breast cancer might be influenced not only by the BRCA1 / BRCA2 mutation but also by modifier genes. One manifestation of this would be the presence of phenocopies in BRCA1/BRCA2 kindreds. Methods: 277 families with pathogenic BRCA1 / BRCA2 mutations were reviewed and 28 breast cancer phenocopies identified. The relative risk of breast cancer in those testing negative was assessed using incidence rates from our cancer registry based on local population. Results: Phenocopies constituted up to 24% of tests on women with breast cancer after the identification of the mutation in the proband. The standardised incidence ratio for women who tested negative for the BRCA1 / BRCA2 family mutation was 5.3 for all relatives, 5.0 for all first-degree relatives (FDRs) and 3.2 (95% confidence interval 2.0 to 4.9) for FDRs in whose family all other cases of breast and ovarian cancer could be explained by the identified mutation. 13 of 107 (12.1%) FDRs with breast cancer and no unexplained family history tested negative. Conclusion: In high-risk families, women who test negative for the familial BRCA1/BRCA2 mutation have an increased risk of breast cancer consistent with genetic modifiers. In light of this, such women should still be considered for continued surveillance.

111 citations

Journal ArticleDOI
TL;DR: Perception of a family history of heart disease depended on knowledge of the health of family members, the number and closeness of relatives with heart conditions, the age of affected relatives, and the respondent's sex and social class.

110 citations

Journal ArticleDOI
TL;DR: Factors influencing perceptions of family history may vary between individuals and between diseases, and to use the family history as a tool in preventive healthcare the authors will need to consider the individual's personal understanding of disease risk and their ideas about cause and controllability of the familial illness.
Abstract: Results. People with a family history of cancer had a greater sense of personal vulnerability than people with a family history of heart disease: family history of diabetes was generally viewed as the least threatening. Using the CSM constructs we identified factors which determine individual perceptions of family history. Beliefs about consequences and timeline were influenced by witnessing painful, lingering or sudden familial death; people who felt their risk was determined by inheritance were more likely to feel vulnerable and have less control, while those who felt able to change lifestyle or behaviour felt more able to control their perceived risk. Conclusion. Factors influencing perceptions of family history may vary between individuals and between diseases. To use the family history as a tool in preventive healthcare we will need to consider the individual’s personal understanding of disease risk and their ideas about cause and controllability of the familial illness. Perceived risk may then be used to motivate preventive health behaviours.

98 citations

Journal ArticleDOI
TL;DR: A longitudinal study of 43 families referred to a clinical genetic service was undertaken to ascertain client needs and expectations of the service, and to identify relevant outcomes from the clients' perspective.
Abstract: Previous studies of genetic counseling have mainly focused on outcomes defined by researchers or service providers, and have frequently related to changes in reproductive behavior and/or client knowledge. A longitudinal study of 43 families referred to a clinical genetic service was undertaken to ascertain client needs and expectations of the service, and to identify relevant outcomes from the clients' perspective. Semistructured interviews were conducted with each client, prior to and after genetic counseling. The transcribed interviews were analyzed using grounded theory. The need for certainty emerged as a powerful factor that motivated clients to pursue the genetic referral. The client's lay knowledge of the condition, satisfaction of the need for certainty, and the formation of a personalized relationship between the client and the genetics staff significantly influenced the central outcome, identified as a change in the client's psychological adaptation to the genetic condition in the family.

91 citations

Journal ArticleDOI
TL;DR: 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, which created uncertainties for patients and carries potential clinical and social implications.
Abstract: 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.

27 citations