scholarly journals Mapping Users’ Experience of a Family History and Genetic Risk Algorithm Tool in Primary Care

2021 ◽  
pp. 1-10
Author(s):  
Špela Miroševič ◽  
Kaja Krajc ◽  
Zalika Klemenc-Ketiš ◽  
Polona Selič-Zupančič
Keyword(s):  
Primary Care ◽  
Family History ◽  
Genetic Risk ◽  
Disease Risk ◽  
Comparative Method ◽  
Patient Specific ◽  
Telephone Interviews ◽  
Usability Problems ◽  
Risk Algorithm ◽  
Increased Risk

<b><i>Introduction:</i></b> The development of a family history (FH) questionnaire (FHQ) provides an insight into a patient’s familiarity of a trait and helps to identify individuals at increased risk of disease. A critical aspect of developing a new tool is exploring users’ experience. <b><i>Objective:</i></b> The objective of this study was to examine users’ experience, obstacles and challenges, and their views and concerns in the applicability of a new tool for determining genetic risk in Slovenia’s primary care. <b><i>Methods:</i></b> We used a qualitative approach. The participants completed a risk assessment software questionnaire that calculates users’ likelihood of developing familial diseases. Audio-taped semi-structured telephone interviews were conducted to evaluate their experience. There were 21 participants, and analyses using the constant comparative method were employed. <b><i>Results:</i></b> We identified 3 main themes: obstacles/key issues, suggestions for improvements, and coping. The participants were poorly satisfied with the clarity of instructions, technical usability problems, and issues with the entry of relatives’ data. They expressed satisfaction with some of the characteristics of the FHQ (e.g., straightforward and friendly format, easy entry, and comprehension). They suggested simpler language, that the disease risk should be targeted toward the disease, that the FHQ should include patient-specific recommendations, and that it should be part of the electronic medical records. When discussing what would they do with the results of the FHQ, the participants used different coping strategies: active (e.g., seeking information) or passive (e.g., avoidance). <b><i>Discussion/Conclusion:</i></b> User experience was shown to be a synthesis of obstacles, overcoming them with suggestions for improvements, and exploration of various coping mechanisms that may emerge from dealing with the stressor of “being at risk.”

scholarly journals Family History–Wide Association Study to Identify Clinical and Environmental Risk Factors for Common Chronic Diseases

2019 ◽  
Vol 188 (8) ◽  
pp. 1563-1568
Author(s):  
Danielle Rasooly ◽  
John P A Ioannidis ◽  
Muin J Khoury ◽  
Chirag J Patel
Keyword(s):  
Family History ◽  
Association Study ◽  
Chronic Diseases ◽  
Quantitative Traits ◽  
Disease Risk ◽  
Family History Of Diabetes ◽  
Health And Nutrition ◽  
Increased Risk ◽  
History Of Disease ◽  
History Of

Abstract Family history is a strong risk factor for many common chronic diseases and summarizes shared environmental and genetic risk, but how this increased risk is mediated is unknown. We developed a “family history–wide association study” (FamWAS) to systematically and comprehensively test clinical and environmental quantitative traits (CEQTs) for their association with family history of disease. We implemented our method on 457 CEQTs for association with family history of diabetes, asthma, and coronary heart disease (CHD) in 42,940 adults spanning 8 waves of the 1999–2014 US National Health and Nutrition Examination Survey. We conducted pooled analyses of the 8 survey waves and analyzed trait associations using survey-weighted logistic regression. We identified 172 (37.6% of total), 32 (7.0%), and 78 (17.1%) CEQTs associated with family history of diabetes, asthma, and CHD, respectively, in subcohorts of individuals without the respective disease. Twenty associated CEQTs were shared across family history of diabetes, asthma, and CHD, far more than expected by chance. FamWAS can examine traits not previously studied in association with family history and uncover trait overlap, highlighting a putative shared mechanism by which family history influences disease risk.

CYP46A1 variants influence Alzheimer’s disease risk and brain cholesterol metabolism

2009 ◽  
Vol 24 (3) ◽  
pp. 183-190 ◽  
Author(s):  
Heike Kölsch ◽  
Dieter Lütjohann ◽  
Frank Jessen ◽  
Julius Popp ◽  
Frank Hentschel ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Genetic Risk ◽  
Cholesterol Metabolism ◽  
Disease Risk ◽  
Brain Cholesterol ◽  
Increased Risk ◽  
Csf Levels ◽  
Interaction Term ◽  
Gene Variability

AbstractBackgroundCholesterol 24S-hydroxylase (CYP46) catalyzes the conversion of cholesterol to 24S-hydroxycholesterol, the primary cerebral cholesterol elimination product. Only few gene variations in CYP46 gene (CYP46A1) have been investigated for their relevance as genetic risk factors of Alzheimer’s disease (AD) and results are contradictory.MethodsWe performed a gene variability screening in CYP46A1 and investigated the effect of gene variants on the risk of AD and on CSF levels of cholesterol and 24S-hydroxycholesterol.ResultsTwo of the identified 16 SNPs in CYP46A1 influenced AD risk in our study (rs7157609: p = 0.016; rs4900442: p = 0.019). The interaction term of both SNPs was also associated with an increased risk of AD (p = 0.006). Haplotypes including both SNPs were calculated and haplotype G–C was identified to influence the risk of AD (p = 0.005). AD patients and non-demented controls, who were carriers of the G–C haplotype, presented with reduced CSF levels of 24S-hydroxycholesterol (p = 0.001) and cholesterol (p < 0.001).ConclusionOur results suggest that CYP46A1 gene variations might act as risk factor for AD via an influence on brain cholesterol metabolism.

scholarly journals Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease

2021 ◽  
Vol 12 ◽  
Author(s):  
Sophia R. L. Vieira ◽  
Huw R. Morris
Keyword(s):  
Genetic Risk ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Disease Risk ◽  
Late Onset ◽  
Gene Mutations ◽  
Carrier Status ◽  
Lysosomal Storage ◽  
Increased Risk ◽  
Distinct Allele

Genetics has driven significant discoveries in the field of neurodegenerative diseases (NDDs). An emerging theme in neurodegeneration warrants an urgent and comprehensive update: that carrier status of early-onset autosomal recessive (AR) disease, typically considered benign, is associated with an increased risk of a spectrum of late-onset NDDs. Glucosylceramidase beta (GBA1) gene mutations, responsible for the AR lysosomal storage disorder Gaucher disease, are a prominent example of this principle, having been identified as an important genetic risk factor for Parkinson disease. Genetic analyses have revealed further examples, notably GRN, TREM2, EIF2AK3, and several other LSD and mitochondria function genes. In this Review, we discuss the evidence supporting the strikingly distinct allele-dependent clinical phenotypes observed in carriers of such gene mutations and its impact on the wider field of neurodegeneration.

scholarly journals The Onset of Depression in Middle-Aged Presumed Healthy Slovenian Family Practice Attendees and Its Associations with Genetic Risk Assessment, Quality of Life and Health Status: A Contribution for Family Medicine Practitioners’ Early Detection

2021 ◽  
Vol 18 (15) ◽  
pp. 8197
Author(s):  
Nina Jerala ◽  
Polona Selič-Zupančič
Keyword(s):  
Quality Of Life ◽  
Primary Care ◽  
Family History ◽  
Family Medicine ◽  
Genetic Risk ◽  
Risk Level ◽  
Genetic Risk Assessment ◽  
Prevalence Of Depression ◽  
Related Quality

Despite depression being a major driver of morbidity and mortality, the majority of primary care patients remain undiagnosed, so this study aimed to assess the prevalence of depression and the association with demographic and clinical variables, genetic risk, and quality of life. The participants were presumably healthy model family medicine practice (MFMP) attendees between 30 and 65 years of age and recruited during a preventive check-up in 2019. Each of the 40 pre-selected MFMP pragmatically invited 30 attendees to voluntarily participate. They completed a questionnaire of demographic, clinical, and social determinants, as well as a three-generational family history. The results were analyzed using multivariable modelling to calculate the associations with signs of depression. A modified Scheuner method was used to calculate the level genetic risk level using family history. Of 968 participants, aged 42.8 ± 8.6 years, 627 (64.8%) were women. The prevalence of depression was 4.1%. Signs of depression were negatively associated with health-related quality of life score, in particular in the domains of self-care (p = 0.001) and anxiety/depression (p < 0.001). Depression was also associated with predicted high risk for comorbidities given the family history (p = 0.030). Primary care directed at improving patients’ quality of life should implement more widespread screening for mental health disorders. Family history for disease even beyond depression can be used by physicians as an important primary prevention tool.

scholarly journals Environmental factors influencing the link between APOE ε4 and Alzheimer's disease (AD) risk

2018 ◽  
Vol 31 (2) ◽  
pp. 305-306 ◽  
Author(s):  
Keith Fluegge
Keyword(s):  
Risk Factors ◽  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Genetic Risk ◽  
Temporal Relationship ◽  
Disease Risk ◽  
Apoe Ε4 ◽  
Factors Influencing ◽  
Increased Risk ◽  
Ε4 Allele

While APOE ε4 allele is considered a genetic risk factor for Alzheimer's disease (AD), no relation existed between APOE ε4 and AD in the Yoruba in Nigeria among cohorts included in early prevalence waves. The authors’ explanation that other disease susceptibilities may provoke earlier mortality is inconsistent with the Yoruba having a lower incidence of disease risk factors. Cohort enrichment in 2001 has altered the authors’ conclusions; Yorba participants homozygous, and not heterozygous, for the ε4 allele had significantly increased risk for AD (HR = 2.95, p = 0.0002) (Hendrie et al., 2014). This is a critical revelation, yet it is not clear why such a temporal relationship exists between risk genotypes and AD among the Yoruba. This letter proposes an explanation.

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