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Welcome to the population health resource center

Learn about the most up-to-date research and data on population genomics.

Color webinars

Join Color to learn about the research and data on the clinical validity, clinical utility, and under-diagnosis of testing for CDC Tier 1 genomic conditions. 

Featured Resources

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Color Population Health

Read about Color's end-to-end solution and learn more about its analytical and clinical validity, as well as how Color can provide cost-effective, clinically actionable results for your patient population

Population genomics implementation resources

Resources for institutions seeking to implement population genomics programs

Featured Resources 

CDC. Tier 1 Genomics Applications and their Importance to Public Health. Accessed May 2018.

National Academies of Sciences, Engineering, and Medicine.National Academies Roundtable on Genomics and Precision Health. Accessed May 2018.

National Academies of Sciences, Engineering, and Medicine. Implementing and Evaluating Genomic Screening Programs in Health Care Systems. Accessed May 2018.

National Academies of Sciences, Engineering, and Medicine. Report from Population Screening Working Group. Accessed May 2018.

Doyle et al. Proposed Outcomes Measures For Public Health Genomic Programs. Genetics in Medicine. 2018.

Feero et al. Precision Medicine, Genome Sequencing, and Improved Population Health. JAMA Network Open. 2018.

Lu et al. A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system. Genetics in Review. 2018.

Evidence supporting CDC Tier 1 genomic conditions for population screening

Research and data on the clinical validity, clinical utility, under-diagnosis, and cost-effectiveness of testing for CDC Tier 1 genomic conditions

Featured Resources 

 

Clinical Validity: Gene-disease associations

Petrucelli et al. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. GeneReviews. Accessed May 2018.

Kohlmann & Gruber. Lynch Syndrome. GeneReviews. Accessed May 2018.

Youngblom et al. Familial Hypercholesterolemia. GeneReviews. Accessed May 2018.

 

Clinical Validity: Penetrance determined from population-based studies

Akbar et al. Coming of age in Canada: a study of population-based genetic testing for breast and ovarian cancer. Current Oncology. 2017.

Metcalfe et al. The risk of breast cancer in BRCA1 and BRCA2 mutation carriers without a first-degree relative with breast cancer. Clinical Genetics. 2018.

Gabai-Kapara et al. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proceedings of the National Academy of Sciences of the United States of America. 2014.

Kuchenbaecker et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017.

Mavaddat et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. Journal of the National Cancer Institute. 2013.

Pearlman et al. Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. JAMA. 2017.

Stoffel et al. Germline Genetic Features of Young Individuals With Colorectal Cancer. Gastroenterology. 2018.

Abul-Husn et al. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016.

Akioyamen et al. Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. Science. 2016.

Khera et al. Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. Journal of the American College of Cardiology. 2016.

Sturm et al. Clinical Genetic Testing for Familial Hypercholesterolemia. Journal of the American College of Cardiology. 2018.

Clinical Utility: Risks and preventive management for CDC Tier 1 genomics conditions

ClinGen Actionability Working Group. Clinical Actionability Summary Report: Hereditary Breast and Ovarian Cancer. Accessed May 2018.

ClinGen Actionability Working Group. Clinical Actionability Summary Report: Lynch Syndrome. Accessed May 2018.

ClinGen Actionability Working Group. Clinical Actionability Summary Report: Heterozygous Familial Hypercholesterolemia. Accessed May 2018.

 

Current criteria-based approach is missing ~30% to 50% of high-risk people

Grindedal et al. Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. BMC Cancer. 2017.

Møller et al. Genetic epidemiology of BRCA mutations--family history detects less than 50% of the mutation carriers. European Journal of Cancer. 2007.

Nilsson et al. Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer. Familial Cancer. 2017.

Buchanan et al. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genetics in Medicine. 2018.

Pearlman et al. Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. JAMA. 2017.

Stoffel et al. Germline Genetic Features of Young Individuals With Colorectal Cancer. Gastroenterology. 2018.

Chen et al. Low Prevalence of Criteria for Early Screening in Young-Onset Colorectal Cancer. American Journal of Preventive Medicine. 2017.

Akioyamen et al. Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. Science. 2017.

Khera et al. Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. Journal of the American College of Cardiology. 2016.

Knowles et al. Reducing the burden of disease and death from familial hypercholesterolemia: A call to action. American Heart Journal. 2016.

 

Cost-effectiveness: Health economics outcomes research

Long & Ganz. Cost-effectiveness of Universal BRCA1/2 Screening: Evidence-Based Decision Making. JAMA Oncology. 2015.

Manchanda et al. Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women. Journal of the National Cancer Institute. 2018.

Nordestgaard et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease : Consensus Statement of the European Atherosclerosis Society. European Heart Journal. 2013.

Murray, Michael. The Path to Routine Genomic Screening in Health Care. Annals of Internal Medicine. 2018.

Population genomics research studies

Learn about early results from large-scale genomic research efforts to further our understanding of disease and its management

Learn how population screening can benefit your institution

Get in touch with Color’s medical and scientific leadership to understand how to champion population genomics at your institution and see how the health outcomes model applies to your population.