Genomics & Precision Health Database| the Genomics & Health Impact Weekly Sca|PHGKB

Genomics & Precision Health Database| the Genomics & Health Impact Weekly Sca|PHGKB

Publication Date: May 9, 2019

About the Genomics & Health Impact Weekly Scan

This weekly update features emerging roles of genomics interventions across the life span. The weekly scan focus on various conditions 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 database. View Data Selection Criteria

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Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer
• Chronic Disease
• Ethical, Legal and Social Issues (ELSI)
• General Practice
• Heart, Lung, Blood and Sleep Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health

Birth Defects and Child Health

• Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors.
  Serra-Juhe Clara et al. European journal of human genetics : EJHG 2019 May
• Mitochondrial DNA mutation analysis from exome sequencing - a more holistic approach in diagnostics of suspected mitochondrial disease.
  Wagner Matias et al. Journal of inherited metabolic disease 2019 May
• Exome Sequencing in Children.
  Mahler Elisa A et al. Deutsches Arzteblatt international 2019 Mar 116(12) 197-204
• Genotype-phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study.
  Chawner Samuel J R A et al. The lancet. Psychiatry 2019 May
• Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
  Heyne Henrike O et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 May

Cancer

• Trends in BRCA testing and socioeconomic deprivation.
  Martin Antony P et al. European journal of human genetics : EJHG 2019 May
• The Prognostic Significance of the Oncotype DX Recurrence Score in T 1-2 N 1 M 0 Estrogen Receptor-Positive HER2-Negative Breast Cancer Based on the Prognostic Stage in the Updated AJCC 8th Edition.
  Wang Maoli et al. Annals of surgical oncology 2019 May 26(5) 1227-1235
• Lynch syndrome and urologic malignancies: a contemporary review.
  Lim Amy et al. Current opinion in urology 2019 Apr
• Impact of gene mutations and chromosomal aberrations on progression-free survival in chronic lymphocytic leukemia patients treated with front-line chemoimmunotherapy: Clinical practice experience.
  Spunarova Michaela et al. Leukemia research 2019 Apr 8175-81
• Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing.
  Slavin Thomas P et al. Cancer genetics 2019 Apr
• Mutational Diversity and Therapy Response in Breast Cancer: A Sequencing Analysis in the Neoadjuvant GeparSepto Trial.
  Loibl Sibylle et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 Apr
• ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach.
  Luchini C et al. Annals of oncology : official journal of the European Society for Medical Oncology 2019 May
• Genomic Classifiers for Treatment Selection in Newly Diagnosed Prostate Cancer.
  Fine Noam David et al. BJU international 2019 May
• Differences between screen-detected and interval breast cancers among BRCA mutation carriers.
  Pilewskie Melissa et al. Breast cancer research and treatment 2019 May 175(1) 141-148
• Molecular profile in Paraguayan colorectal cancer patients, towards to a precision medicine strategy.
  Fleitas-Kanonnikoff Tania et al. Cancer medicine 2019 May
• Opposite Prognostic Impact of Single PTEN-loss and PIK3CA Mutations in Early High-risk Breast Cancer.
  Lazaridis Georgios et al. Cancer genomics & proteomics 16(3) 195-206

Chronic Disease

• Identification of Candidate Biomarkers for Transplant Rejection from Transcriptome Data: A Systematic Review.
  Paladini Sheyla Velasques et al. Molecular diagnosis & therapy 2019 May
• Genetics in primary care: validating a tool to pre-symptomatically assess common disease risk using an Australian questionnaire on family history.
  Houwink Elisa J F et al. Clinical and translational medicine 2019 May 8(1) 17
• APOL1 high risk genotypes and renal transplantation.
  Shah Sapna et al. Clinical transplantation 2019 May e13582
• Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD).
  Dudley Jan et al. BMC nephrology 2019 Apr 20(1) 148
• Genetic risk score has added value over initial clinical grading stage in predicting disease progression in age-related macular degeneration.
  Heesterbeek Thomas J et al. Scientific reports 2019 Apr 9(1) 6611

Ethical, Legal and Social Issues (ELSI)

• NGS-Based genetic testing for heritable cardiovascular diseases. Specific requirements for obtaining informed consent.
  Schmidtke Jörg et al. Molecular and cellular probes 2019 May
• Recontact practices of cancer genetic counselors and an exploration of professional, legal, and ethical duty.
  Mueller Amy et al. Journal of genetic counseling 2019 May

General Practice

• Developing culturally informed genetic services for the Somali immigrants in Minnesota.
  Cheung Fook Yee et al. Journal of genetic counseling 2019 May
• GP attitudes to and expectations for providing personal genomic risk information to the public: a qualitative study.
  Smit Amelia K et al. BJGP open 2019 Apr 3(1) bjgpopen18X101633
• Patient perspectives on the process and outcomes of psychiatric genetic counseling: An "Empowering Encounter".
  Semaka Alicia et al. Journal of genetic counseling 2019 May
• Genetic Predisposition Impacts Clinical Changes in a Lifestyle Coaching Program.
  Zubair Niha et al. Scientific reports 2019 May 9(1) 6805
• Development of the Initial Surveys for the All of Us Research Program.
  Cronin Robert M et al. Epidemiology (Cambridge, Mass.) 2019 Apr
• Concept and benchmarks for assessing narrow-sense validity of genetic risk score values.
  Yu Hongjie et al. The Prostate 2019 Apr
• Genetic counseling job market in the United States and Canada: An analysis of job advertisements 2014-2016.
  Burns Kaitlyn et al. Journal of genetic counseling 2019 May
• Understanding variants of uncertain significance in the era of multigene panels: Through the eyes of the patient.
  Reuter Chloe et al. Journal of genetic counseling 2019 May
• Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders.
  Kim Young Eun et al. Annals of laboratory medicine 2019 Sep 39(5) 421-429

Heart, Lung, Blood and Sleep Diseases

• Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees.
  van den Heuvel Lieke M et al. European journal of human genetics : EJHG 2019 May
• Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders.
  Bastida José María et al. Seminars in thrombosis and hemostasis 2019 Apr
• Detection of familial hypercholesterolaemia: external validation of the FAMCAT clinical case-finding algorithm to identify patients in primary care.
  Weng Stephen et al. The Lancet. Public health 2019 May 4(5) e256-e264
• Update on Molecular Testing in von Willebrand Disease.
  Batlle Javier et al. Seminars in thrombosis and hemostasis 2019 Apr
• Sequencing as a first-line methodology for cystic fibrosis carrier screening.
  Beauchamp Kyle A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Apr
• Genetic and Molecular Testing in Thrombosis and Hemostasis: Informing Surveillance, Treatment, and Prognosis.
  Crispin Philip et al. Seminars in thrombosis and hemostasis 2019 Apr

Newborn Screening

• Association between newborn screening analyte profiles and infant mortality.
  Fell Deshayne et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2019 May 1-121
• International approaches for delivery of positive newborn bloodspot screening results for CF.
  Chudleigh J et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2019 Apr

Pharmacogenomics

• Processes and barriers to implementation of point-of-care genotype-guided dosing of warfarin into UK outpatient anticoagulation clinics.
  Fitzgerald Gail et al. Pharmacogenomics 2019 May
• Pharmacogenomics in dermatology: tools for understanding gene-drug associations.
  Daneshjou Roxana et al. Seminars in cutaneous medicine and surgery 2019 Mar 38(1) E19-E24
• Pharmacogenetic Tests in Reducing Accesses to Emergency Services and Days of Hospitalization in Bipolar Disorder: A 2-Year Mirror Analysis.
  Callegari Camilla et al. Journal of personalized medicine 2019 Apr 9(2)
• Getting to precision psychopharmacology: Combining clinical and genetic information to predict fat gain from aripiprazole.
  Oughli H et al. Journal of psychiatric research 2019 Apr 11467-74
• Preemptive pharmacogenetic testing: exploring the knowledge and perspectives of US payers.
  Keeling Nicholas J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 May 21(5) 1224-1232
• The advantages and challenges of diversity in Pharmacogenomics: Can minority populations bring us closer to implementation?
  Zhang Honghong et al. Clinical pharmacology and therapeutics 2019 Apr
• Development of the PGx-Passport: A Panel of Actionable Germline Genetic Variants for Pre-emptive Pharmacogenetic Testing.
  van der Wouden Cathelijne H et al. Clinical pharmacology and therapeutics 2019 Apr

Reproductive Health

• Evaluation of an automated process for disclosure of negative noninvasive prenatal test results.
  Kalejta Cassidi D et al. Journal of genetic counseling 2019 Apr
• Neonatal outcomes of live births after blastocyst biopsy in preimplantation genetic testing cycles: a follow-up of 1,721 children.
  He Hui et al. Fertility and sterility 2019 May
• Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era.
  Stuurman Kyra E et al. Journal of medical genetics 2019 Apr
• Non-invasive prenatal testing as a valuable source of population specific allelic frequencies.
  Jaroslav Budis et al. Journal of biotechnology 2019 May

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.