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Family Health History PHGKB

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Last Posted: Aug 25, 2022
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FHH Quick App Review: How Can a Quality Review Process Assist Primary Care Providers in Choosing a Family Health History App for Patient Care?
GM Wood et al, Genes, August 2022

Family health history (FHH) is a data type serving risk assessment, diagnosis, research, and preventive health. Despite technological leaps in genomic variant detection, FHH remains the most accessible, least expensive, and most practical assessment tool for assessing risks attributable to genetic inheritance. The purpose of this manuscript is to outline a process to assist primary care professionals in choosing FHH digital tools for patient care based on the new ISO/TS 82304-2 Technical Specification (TS), which is a recently developed method to determine eHealth app quality.

Everyone deserves a diagnosis
The Family Heart Foundation, July 18, 2022

“Runs in the family” is not a diagnosis- Over the past 10 years, we have heard from thousands of people who have heart disease or had a stroke caused by an inherited cholesterol disorder. Unfortunately, they did not learn of their genetic condition until it was too late. The damage was done. They were told that heart disease or high cholesterol “runs in the family” but were never given the name of the genetic cause that leads to so much heartache across generations. We believe families deserve a diagnosis so they can get the care they deserve. That is why we have launched this campaign. We hope you will join us to help reach people who have never heard of FH or elevated Lipoprotein(a).

Incorporating family history of disease improves polygenic risk scores in diverse populations
MLA Hujeol et al, Cell Genomics, July 13, 2022

Polygenic risk scores (PRSs) derived from genotype data and family history (FH) of disease provide valuable information for predicting disease risk, but PRSs perform poorly when applied to diverse populations. Here, we explore methods for combining both types of information (PRS-FH) in UK Biobank data. We evaluated PRS, FH, and PRS-FH using liability-scale R2, primarily focusing on 3 well-powered diseases (type 2 diabetes, hypertension, and depression). PRS attained average prediction R2s of 5.8%, 4.0%, and 0.53% in non-British Europeans, South Asians, and Africans, confirming poor cross-population transferability. In contrast, PRS-FH attained average prediction R2s of 13%, 12%, and 10%, respectively, representing a large improvement in Europeans and an extremely large improvement in Africans. In conclusion, including family history improves the accuracy of polygenic risk scores, particularly in diverse populations.

Family history tools for primary care: A systematic review.
Miroševic Špela et al. The European journal of general practice 2022 28(1) 75-86

This review explores the FH tools currently available for PC and evaluates their clinical performance.Five databases were systematically searched until May 2021. Identified tools were evaluated on the following criteria: time-to-complete, integration with electronic health record (EMR) systems, patient administration, risk-assessment ability, evidence-based management recommendations, analytical and clinical validity and clinical utility.We identified 26?PC FH tools. Analytical and clinical validity was poorly reported and agreement between FH and gold standard was commonly inadequately reported and assessed. Sensitivity was acceptable; specificity was found in half of the reviewed tools to be poor. Most reviewed tools showed a capacity to successfully identify individuals with increased risk of disease (6.2-84.6% of high and/or moderate or increased risk individuals).Despite the potential of FH tools to improve risk stratification of patients in PC, clinical performance of current tools remains limited as well as their integration in EMR systems. Twenty-one FH tools are designed to be self-administered by patients.


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Common data elements to standardize genomics studies in cerebral palsy. External Web Site Icon
Wilson Yana A et al. Developmental medicine and child neurology 2022
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings. External Web Site Icon
Alvarez-Mora Maria Isabel et al. International journal of molecular sciences 2022 23(8)
Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases. External Web Site Icon
Lu Tianyuan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Preconception leisure-time physical activity and family history of stroke and myocardial infarction associate with preterm delivery: findings from a Norwegian cohort. External Web Site Icon
Engen Tone et al. BMC pregnancy and childbirth 2022 22(1) 341
Prenatal genetic counseling practices regarding recommendations for cancer genetic counseling: A retrospective chart review from two academic institutions. External Web Site Icon
Saba Lisa F et al. Journal of genetic counseling 2022
Prevalence of Americans reporting a family history of cancer indicative of increased cancer risk: Estimates from the 2015 National Health Interview Survey. External Web Site Icon
Kumerow Marie T et al. Preventive medicine 2022 107062
Increased Number Of Colorectal Interval Cancers In Lynch Syndrome After The SARS-CoV-2 Pandemic. A Survey-based Study. External Web Site Icon
Russo Michele, et al. Digestive diseases (Basel, Switzerland) 2022 0 0.
Cost-effectiveness of artificial intelligence for screening colonoscopy: a modelling study. External Web Site Icon
Areia Miguel et al. The Lancet. Digital health 2022
Thrombosis Risk History and D-dimer Levels in Asymptomatic Individuals with Prader-Willi Syndrome. External Web Site Icon
Matesevac Lisa et al. Journal of clinical medicine 2022 11(7)
Tumor BRCA Testing in Epithelial Ovarian Cancers: Past and Future-Five-Years' Single-Institution Experience of 762 Consecutive Patients. External Web Site Icon
Fumagalli Caterina et al. Cancers 2022 14(7)
Association of Family History of Cancer with Clinical and Pathological Outcomes for Prostate Cancer Patients on Active Surveillance. External Web Site Icon
Jibara Ghalib A et al. The Journal of urology 2022 101097JU0000000000002668
Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis. External Web Site Icon
Christian Susan et al. Open heart 2022 9(1)
Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome. External Web Site Icon
Guan Bao et al. Frontiers in oncology 2022 12774202
Interventions to improve delivery of cancer genetics services in the United States: A scoping review. External Web Site Icon
Bednar Erica M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
BRCA mutations: Implications of genetic testing in ovarian cancer. External Web Site Icon
Talwar Vineet et al. Indian journal of cancer 2022 59(Supplement) S56-S67
Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program. External Web Site Icon
Bychkovsky Brittany L et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2022
Inherited risk assessment and its clinical utility for predicting prostate cancer from diagnostic prostate biopsies. External Web Site Icon
Xu Jianfeng et al. Prostate cancer and prostatic diseases 2022
Can Automated Alerts in the Electronic Health Record Encourage Referrals for Genetic Counseling and Testing Among Patients at High Risk for Hereditary Cancer Syndromes? External Web Site Icon
Zorn Kristin K et al. JCO oncology practice 2022 OP2100641
Do current family history-based genetic testing guidelines contribute to breast cancer health inequities? External Web Site Icon
Jakuboski Samantha H et al. NPJ breast cancer 2022 8(1) 36

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Family Health History PHGKB is an online, continuously updated, searchable database of information and publications relevant to the role of family health history in healthcare and disease prevention....more

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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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