Family history assessment significantly enhances delivery of precision medicine in the genomics era

[1]  A. Slonim,et al.  Population genetic screening efficiently identifies carriers of autosomal dominant diseases , 2020, Nature Medicine.

[2]  G. Ginsburg,et al.  Evaluation of family health history collection methods impact on data and risk assessment outcomes , 2020, Preventive medicine reports.

[3]  A. Sahlén,et al.  Harnessing technology and molecular analysis to understand the development of cardiovascular diseases in Asia: a prospective cohort study (SingHEART) , 2019, BMC Cardiovascular Disorders.

[4]  Rachel B. Issaka,et al.  Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European , 2019, Familial Cancer.

[5]  C. Gau,et al.  REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification , 2019, Scientific Reports.

[6]  G. Ginsburg,et al.  Family health history: underused for actionable risk assessment , 2019, The Lancet.

[7]  B. Teh,et al.  Implementation of genomics in medical practice to deliver precision medicine for an Asian population , 2019, npj Genomic Medicine.

[8]  A. Slonim,et al.  Population Health Genetic Screening for Tier 1 Inherited Diseases in Northern Nevada: 90% of At-Risk Carriers are Missed , 2019, bioRxiv.

[9]  S. Fedewa,et al.  Cancer screening in the United States, 2019: A review of current American Cancer Society guidelines and current issues in cancer screening , 2019, CA: a cancer journal for clinicians.

[10]  J. McNeil,et al.  Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis , 2019, Genetics in Medicine.

[11]  Rakesh R. Patel,et al.  Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle? , 2018, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[12]  R. Green,et al.  Reconciling Opportunistic and Population Screening in Clinical Genomics , 2019, Mayo Clinic proceedings.

[13]  S. Armenian,et al.  Optimizing Cardiovascular Care in Children With Acute Myeloid Leukemia to Improve Cancer-Related Outcomes. , 2019, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[14]  A. Borkhardt,et al.  Penetrance and Expressivity in Inherited Cancer Predisposing Syndromes. , 2018, Trends in cancer.

[15]  A. V. Vulto-van Silfhout,et al.  1 in 38 individuals at risk of a dominant medically actionable disease , 2018, European Journal of Human Genetics.

[16]  N. Spinner,et al.  Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study , 2018, Genetics in Medicine.

[17]  I. Campbell,et al.  Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility , 2018, Genetics in Medicine.

[18]  M. Best,et al.  Psychosocial and behavioral outcomes of genomic testing in cancer: a systematic review , 2018, European Journal of Human Genetics.

[19]  Yifan Peng,et al.  LitVar: a semantic search engine for linking genomic variant data in PubMed and PMC , 2018, Nucleic Acids Res..

[20]  The 100 000 Genomes Project: bringing whole genome sequencing to the NHS , 2018, British Medical Journal.

[21]  Damian Smedley,et al.  The 100 000 Genomes Project: bringing whole genome sequencing to the NHS , 2018, British Medical Journal.

[22]  R. Myers,et al.  Genomic sequencing identifies secondary findings in a cohort of parent study participants , 2017, Genetics in Medicine.

[23]  Steven J. M. Jones,et al.  Pathogenic Germline Variants in 10,389 Adult Cancers. , 2018, Cell.

[24]  Daniele Merico,et al.  The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants , 2018, Canadian Medical Association Journal.

[25]  Anders M. Dale,et al.  Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults , 2017, Proceedings of the National Academy of Sciences.

[26]  Matthew S. Lebo,et al.  A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort , 2017, bioRxiv.

[27]  Matthew S. Lebo,et al.  The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. , 2017, Annals of internal medicine.

[28]  P. Stenson,et al.  The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies , 2017, Human Genetics.

[29]  P. Stenson,et al.  The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies , 2017, Human Genetics.

[30]  Quan Li,et al.  InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. , 2017, American journal of human genetics.

[31]  W. Chung,et al.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics , 2016, Genetics in Medicine.

[32]  D. Campbell-Scherer,et al.  Assessing family history of chronic disease in primary care: Prevalence, documentation, and appropriate screening. , 2017, Canadian family physician Medecin de famille canadien.

[33]  P. Sham,et al.  Actionable secondary findings from whole-genome sequencing of 954 East Asians , 2017, Human Genetics.

[34]  A. Zauber,et al.  Understanding the contribution of family history to colorectal cancer risk and its clinical implications: A state‐of‐the‐science review , 2016, Cancer.

[35]  Asif Javed,et al.  Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine? , 2016, EBioMedicine.

[36]  D. Ledbetter,et al.  The Geisinger MyCode Community Health Initiative: an electronic health record-linked biobank for Precision Medicine research , 2015, Genetics in Medicine.

[37]  Ricardo Villamarín-Salomón,et al.  ClinVar: public archive of interpretations of clinically relevant variants , 2015, Nucleic Acids Res..

[38]  Li Ding,et al.  Germline Mutations in Predisposition Genes in Pediatric Cancer. , 2015, The New England journal of medicine.

[39]  G. Ginsburg,et al.  Protocol for the “Implementation, adoption, and utility of family history in diverse care settings” study , 2015, Implementation Science.

[40]  Heidi L Rehm,et al.  ClinGen--the Clinical Genome Resource. , 2015, The New England journal of medicine.

[41]  R. van Hillegersberg,et al.  Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers , 2015, Journal of Medical Genetics.

[42]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[43]  J. Wardle,et al.  Population Testing for Cancer Predisposing BRCA1/BRCA2 Mutations in the Ashkenazi-Jewish Community: A Randomized Controlled Trial , 2014, Journal of the National Cancer Institute.

[44]  A. Wagner,et al.  Guidelines on Genetic Evaluation and Management of Lynch Syndrome , 2015, The American Journal of Gastroenterology.

[45]  Nazneen Rahman,et al.  Breast-cancer risk in families with mutations in PALB2. , 2014, The New England journal of medicine.

[46]  Randall W Burt,et al.  Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer. , 2014, Gastroenterology.

[47]  R Raine,et al.  Reasons for non-uptake and subsequent participation in the NHS Bowel Cancer Screening Programme: a qualitative study , 2014, British Journal of Cancer.

[48]  Geoffrey S Ginsburg,et al.  Implementing family health history risk stratification in primary care: Impact of guideline criteria on populations and resource demand , 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

[49]  Geoffrey S Ginsburg,et al.  Quality of family history collection with use of a patient facing family history assessment tool , 2014, BMC Family Practice.

[50]  Nazneen Rahman,et al.  Realizing the promise of cancer predisposition genes , 2014, Nature.

[51]  P. Ang,et al.  Breast-cancer risk in families with mutations in PALB2. , 2014, The New England journal of medicine.

[52]  Celette Sugg Skinner,et al.  Development and validation of a primary care-based family health history and decision support program (MeTree). , 2013, North Carolina medical journal.

[53]  M. Doerr,et al.  Family history: Still relevant in the genomics era , 2012, Cleveland Clinic Journal of Medicine.

[54]  D. Jong,et al.  Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance , 2012, Familial Cancer.

[55]  Leslie G Biesecker,et al.  Validation of My Family Health Portrait for six common heritable conditions , 2010, Genetics in Medicine.

[56]  M. Greene,et al.  Coherence and Completeness of Population-based Family Cancer Reports , 2010, Cancer Epidemiology, Biomarkers & Prevention.

[57]  R. Nussbaum,et al.  Genetic/familial high-risk assessment: breast and ovarian. , 2010, Journal of the National Comprehensive Cancer Network : JNCCN.

[58]  J. Beaumont,et al.  Familial risk for common diseases in primary care: the Family Healthware Impact Trial. , 2009, American journal of preventive medicine.

[59]  A. Stockdale,et al.  Interviews with primary care physicians regarding taking and interpreting the cancer family history. , 2008, Family practice.

[60]  E. Cohen,et al.  We Can Do Better — Improving the Health of the American People , 2008 .

[61]  S. Schroeder Shattuck Lecture. We can do better--improving the health of the American people. , 2007, The New England journal of medicine.

[62]  H. Murff,et al.  Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. , 2004, JAMA.

[63]  Hilde van der Togt,et al.  Publisher's Note , 2003, J. Netw. Comput. Appl..

[64]  Muin J Khoury,et al.  Can family history be used as a tool for public health and preventive medicine? , 2002, Genetics in Medicine.

[65]  Alan F. Scott,et al.  Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders , 2004, Nucleic Acids Res..

[66]  David I. Smith,et al.  Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating β-catenin/TCF signalling , 2000, Nature Genetics.

[67]  David I. Smith,et al.  Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling (vol 26, pg 146, 2000) , 2000 .

[68]  A. Folsom,et al.  Accuracy of proband reported family history: The NHLBI Family Heart Study (FHS) , 1999, Genetic epidemiology.

[69]  Sue-Jane Wang,et al.  Family history: a comprehensive genetic risk assessment method for the chronic conditions of adulthood. , 1997, American journal of medical genetics.

[70]  Douglas G. Altman,et al.  Practical statistics for medical research , 1990 .