Public Health Genomics Knowledge Base (v1.2)

Publication Date: Feb 2, 2017

About the Genomics & Health Impact Weekly Scan

This weekly update features emerging roles of human genomics, testing and interventions in a wide variety of noncommunicable diseases across the life span, including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly sweep also includes news, reviews, commentaries, tools and databases.

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Human Genomics across the Lifespan

Birth Defects/Child Health




Cardiovascular Diseases

Newborn Screening


Reproductive Health


Birth Defects and Child Health

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.
Feng Yanming et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.
Bernardis Isabella et al. BioMed research international 2016 20166341870

Cystic Fibrosis Diagnostic Challenges over 4 Decades: Historical Perspectives and Lessons Learned.
Farrell Philip M et al. The Journal of pediatrics 2017 Feb 181SS16-S26

Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses.
Sosnay Patrick R et al. The Journal of pediatrics 2017 Feb 181SS27-S32.e1

Diagnosis of Cystic Fibrosis in Screened Populations.
Farrell Philip M et al. The Journal of pediatrics 2017 Feb 181SS33-S44.e2

Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation.
Farrell Philip M et al. The Journal of pediatrics 2017 Feb 181SS4-S15.e1

Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive Diagnosis.
Ren Clement L et al. The Journal of pediatrics 2017 Feb 181SS45-S51.e1

Diagnosis of Cystic Fibrosis in Nonscreened Populations.
Sosnay Patrick R et al. The Journal of pediatrics 2017 Feb 181SS52-S57.e2

Crizanlizumab for the Prevention of Pain Crises in Sickle Cell Disease.
Ataga Kenneth I et al. The New England journal of medicine 2017 Feb 376(5) 429-439

FDA Gives Breakthrough Designation to Hemophilia Gene Therapy
National Hemophilia Foundation, January 30, 2017


Breast cancer genetic testing: more than a medical management tool.
Schroeder Dawn et al. Clinical journal of oncology nursing 2015 Oct 19(5) 603-7

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Cruz-Correa Marcia et al. Hereditary cancer in clinical practice 2017 153

"It was an Emotional Baby": Previvors' Family Planning Decision-Making Styles about Hereditary Breast and Ovarian Cancer Risk.
Dean Marleah et al. Journal of genetic counseling 2017 Jan

Discussing molecular testing in oncology care: Comparing patient and physician information preferences.
Pinheiro Ana P M et al. Cancer 2017 Jan

TCGA study identifies genomic features of cervical cancer
National Cancer Institute, January 23, 2017

Impact of self-reported data on the acquisition of multi-generational family history and lifestyle factors among women seen in a high-risk breast screening program: a focus on modifiable risk factors and genetic referral.
Rosenberger Laura H et al. Breast cancer research and treatment 2017 Jan

Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes.
Nussbaum Robert L et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Jan JCO2016709451

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

Breast Cancer Risk Assessment at the Time of Screening Mammography: Perceptions and Clinical Management Outcomes for Women at High Risk.
Morman Nichole A et al. Journal of genetic counseling 2017 Jan

Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.
Ghazani Arezou A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan

Ethics, Policy and Law

Whole genome sequencing in children: ethics, choice and deliberation.
Newson Ainsley J et al. Journal of medical ethics 2017 Jan

Genomics in Practice

Utilization of genetic tests: analysis of gene-specific billing in Medicare claims data.
Lynch Julie A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan

Health Orientation, Knowledge, and Attitudes toward Genetic Testing and Personalized Genomic Services: Preliminary Data from an Italian Sample.
Oliveri Serena et al. BioMed research international 2016 20166824581

Putting the Pieces Together: Clinically Relevant Genetic and Genomic Resources for Hospitalists and Neonatologists.
Miller Rebecca et al. Hospital pediatrics 2017 Jan

Barriers to the use of toxicogenomics data in human health risk assessment: A survey of Canadian risk assessors.
Vachon Julien et al. Regulatory toxicology and pharmacology : RTP 2017 Jan

How Well Do You Know Your Family? Tips for Compiling A Family Medical History,
by Morgan Simmons, Rare Disease Report, January 27, 2017

Evolving health care through personal genomics.
Rehm Heidi L et al. Nature reviews. Genetics 2017 Jan

Laboratory Genetic Testing in Clinical Practice 2016.
Cogulu Ozgur et al. BioMed research international 2017 20175798714

Precision Medicine at the University of Alabama at Birmingham: Laying the foundational processes through implementation of Genotype-Guided Antiplatelet Therapy.
Harada Shuko et al. Clinical pharmacology and therapeutics 2017 Jan

Promoting appropriate genetic testing: the impact of a combined test review and consultative service.
Suarez Carlos J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan

Genome editing in clinical genetics: points to consider-a statement of the American College of Medical Genetics and Genomics.
Acmg Board Of Directors et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan

Cardiovascular Diseases

Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.
Alejandra Restrepo-Cordoba M et al. Journal of cardiovascular translational research 2017 Jan

Next-Generation Sequencing in Cardiovascular Disease: Present Clinical Applications and the Horizon of Precision Medicine.
Parikh Victoria N et al. Circulation 2017 Jan 135(5) 406-409

Genetic Insurance Discrimination in Sudden Arrhythmia Death Syndromes: Empirical Evidence From a Cross-Sectional Survey in North America.
Mohammed Saira et al. Circulation. Cardiovascular genetics 2017 Jan 10(1)

Newborn Screening

Newborn screening for cystic fibrosis: can one algorithm fit all?
Caggana Michele et al. Expert review of molecular diagnostics 2017 Jan

New program to offer free genetic testing for North Carolina newborns,
Abc News, January 26, 2017

Reproductive Health

Attitudes toward prenatal genetic testing and therapeutic termination of pregnancy among parents of offspring with Prader-Willi syndrome.
Even-Zohar Gross Noa et al. European journal of medical genetics 2017 Jan

Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China.
He Jing et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan

A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.
Tzeng Ching-Cherng et al. Clinical genetics 2017 Jan

Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening.
Besser Andria G et al. Reproductive biomedicine online 2017 Jan

Expert Knowledge Influences Decision-Making for Couples Receiving Positive Prenatal Chromosomal Microarray Testing Results.
Rubel M A et al. Culture, medicine and psychiatry 2017 Jan


Pharmacogenetics and metabolism from science to implementation in clinical practice: the example of dihydropyrimidine dehydrogenase.
Del Re Marzia et al. Current pharmaceutical design 2017

Funding Opportunities

Sudden death warning over faulty heart gene
BBC February 1, 2017

Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific 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 Clips, 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.

Public Health Genomics Knowledge Base (v1.2)

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