Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Jul 6, 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
• Cancer
• Chronic Disease
• Ethics/Policy/Law
• Practice
• Cardiovascular Diseases
• Pharmacogenomics
• Reproductive Health

Birth Defects and Child Health

• From 0 to 60 in 10 years - After a decade of fast-paced discovery, researchers are racing toward bigger datasets, more genes and a deeper understanding of the biology of autism.  
  S Makin, The Spectrum, June 27, 2017
• Japan’s initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey  
  T Adachi et al, Eur J Human Genetics, July 5, 2017
• Whole exome sequencing in clinical genetics: health economic evaluation  
  PHG Foundation, May 2017
• The interplay of common, rare variation in autism  
  M Daly, Spectrum, June 27, 2017
• Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy.  
  Boardman Felicity K et al. Journal of genetic counseling 2017 Jun
• Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.  
  Mattassi Raul et al. Journal of vascular surgery 2017 Jun
• Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.  
  Gulati Ashima et al. Pediatric nephrology (Berlin, Germany) 2017 Jun
• The genetics of autism, explained  
  Washington Post, July 2, 2017
• Whole exome sequencing in clinical genetics - a health economic evaluation  
  GS Sagoo et al, PHG Foundation, June 2017

Cancer

• Genetic Testing for Prostate Cancer in Clinical Practice  
  CC Pritchard, JCO Precision Oncology, June 2017
• Use of Molecular Tools to Identify Patients With Indolent Breast Cancers With Ultralow Risk Over 2 Decades.  
  Esserman Laura J et al. JAMA oncology 2017 Jun
• Make DNA tests routine, says England's chief medical officer  
  The Guardian, July 4, 2017
• Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient.  
  Druker Harriet et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jul 23(13) e91-e97
• Recent Patterns in Genetic Testing for Breast and Ovarian Cancer Risk in the U.S.  
  Han Xuesong et al. American journal of preventive medicine 2017 Jun
• Test gives accurate prognosis for breast cancer patients with 'ultralow' risk  
  A Sandou, Medical News Today, June 30, 2017
• Screening for Lynch Syndrome in Cases with Colorectal Carcinoma from Mashhad.  
  Goshayeshi Ladan et al. Archives of Iranian medicine 2017 Jun 20(6) 332-337
• All cancer patients should have their DNA tested to save lives, Chief Medical Officer says  
  The Telegraph, July 4, 2017
• Clinical Utility of Chromosomal Aneusomy in Individuals at High Risk of Lung Cancer.  
  Barón Anna E et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2017 Jun
• Does biomarker information impact breast cancer patients' preferences and physician recommendation for adjuvant chemotherapy?  
  Partridge Ann H et al. Breast cancer research and treatment 2017 Jun
• Knowledge, attitudes, and values among physicians working with clinical genomics: a survey of medical oncologists.  
  Chow-White Peter et al. Human resources for health 2017 Jun 15(1) 42
• Success of referral to genetic counseling after positive lynch syndrome screening test.  
  Irons Robin F et al. International journal of colorectal disease 2017 Jun
• Exploring Asian Indian and Pakistani views about cancer and participation in cancer genetics research: toward the development of a community genetics intervention.  
  Leader Amy E et al. Journal of community genetics 2017 Jun
• Community Practice Implementation of a Self-administered Version of PREMM1,2,6 to Assess Risk for Lynch Syndrome.  
  Luba Daniel G et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2017 Jun
• Clinical utility of recently identified diagnostic, prognostic, and predictive molecular biomarkers in mature B-cell neoplasms.  
  Onaindia Arantza et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2017 Jun
• The Clinical and Economic Impact of Inaccurate EGFR Mutation Tests in the Treatment of Metastatic Non-Small Cell Lung Cancer.  
  Cheng Mindy M et al. Journal of personalized medicine 2017 Jun 7(3)
• FDA granted marketing approval to the Praxis Extended RAS Panel  
  FDA announcement, July 2017
• Genomic testing for localized prostate cancer: where do we go from here?  
  Loeb Stacy et al. Current opinion in urology 2017 Jun
• Results of screening in familial nonmedullary thyroid cancer.  
  Klubo-Gwiezdzinska Joanna et al. Thyroid : official journal of the American Thyroid Association 2017 Jun
• Current Status and Future Directions for Screening Patients at High Risk for Pancreatic Cancer.  
  McAllister Florencia et al. Gastroenterology & hepatology 2017 May 13(5) 268-275
• Early experience with formalin-fixed paraffin-embedded (FFPE) based commercial clinical genomic profiling of gliomas-robust and informative with caveats.  
  Movassaghi Masoud et al. Experimental and molecular pathology 2017 Jun
• Family Communication, Risk Perception and Cancer Knowledge of Young Adults from BRCA1/2 Families: a Systematic Review.  
  Young Alison L et al. Journal of genetic counseling 2017 Jun
• Issues related to family history of cancer at the end of life: a palliative care providers' survey.  
  Gonthier Catherine et al. Familial cancer 2017 Jul
• Meeting Report of the Fifth International Cancer Epigenetics Conference in Beijing, China, October 2016.  
  Gao Dan et al. Epigenomics 2017 Jul 9(7) 937-941
• Lessons learnt from implementation of a Lynch syndrome screening program for patients with gynaecological malignancy.  
  Najdawi Fedaa et al. Pathology 2017 Jun

Chronic Disease

• Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings.  
  Cook Lola et al. Journal of genetic counseling 2017 Jun
• The Black Swallow Offering hope and an open mind is vital to the patient with a bleak prognosis.  
  Genome Magazine, July 5, 2017

Ethics/Policy/Law

• The Spillover of Genomic Testing Results in Families: Same Variant, Different Logics.  
  Timmermans Stefan et al. Journal of health and social behavior 2017 Jun 58(2) 166-180
• Balancing the Local and the Universal in Maintaining Ethical Access to a Genomics Biobank  
  C Heeney et al, BioRXiv, June 2017

Practice

• Chief medical officer calls for gene testing revolution  
  BBC News, July 4, 2017
• Informed consent for next-generation nucleotide sequencing studies: Aiding communication between participants and investigators.  
  Kost Rhonda G et al. Journal of clinical and translational science 2017 Apr 1(2) 115-120
• You Can Get Your Whole Genome Sequenced. But Should You?  
  M Molteni, Wired Magazine, June 26, 2017
• Family (Still) Matters Getting a patient’s relatives involved in the genetic counseling process is imperative in the genomic era.  
  Genome Magazine, July 5, 2017
• Driving the genomic dream for the NHS  
  P Brice, PHG Foundation, July 4, 2017
• Fifteen years of genetic testing from a London developmental clinic.  
  Best Sunayna et al. Archives of disease in childhood 2017 Jun
• Great expectations: patient perspectives and anticipated utility of non-diagnostic genomic-sequencing results.  
  Hylind Robyn et al. Journal of community genetics 2017 Jun
• Behavioural changes, sharing behaviour and psychological responses after receiving direct-to-consumer genetic test results: a systematic review and meta-analysis.  
  Stewart Kelly F J et al. Journal of community genetics 2017 Jun
• Working with the Hmong Population in a Genetics Setting: Genetic Counselor Perspectives.  
  Agather Aime et al. Journal of genetic counseling 2017 Jun
• Annual Report of the Chief Medical Officer 2016- Generation Genome[PDF 4.84 MB]  
  UK, July 4, 2017
• Understanding the Genetics Revolution  
  C Zimmer, Aspen Institute, July 2017
• CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance.  
  Oglesbee Devin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun

Cardiovascular Diseasesr

• Genetics of pulmonary hypertension in the clinic.  
  Girerd Barbara et al. Current opinion in pulmonary medicine 2017 Jun
• Position Statement on the Diagnosis and Management of Familial Dilated Cardiomyopathy.  
  Fatkin Diane et al. Heart, lung & circulation 2017 Jun

Pharmacogenomics

• Medical education in pharmacogenomics-results from a survey on pharmacogenetic knowledge in healthcare professionals within the European pharmacogenomics clinical implementation project Ubiquitous Pharmacogenomics (U-PGx).  
  Just Katja Susanne et al. European journal of clinical pharmacology 2017 Jul
• Psychiatric Pharmacogenomics: How to Integrate into Clinical Practice.  
  Stahl Stephen M et al. CNS spectrums 2017 Feb 22(1) 1-4
• Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy.  
  Glauser Tracy A et al. Annals of neurology 2017 Mar 81(3) 444-453

Reproductive Health

• Contingent first-trimester screening for aneuploidies with cell-free DNA in a Danish clinical setting.  
  Miltoft Caroline Borregaard et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2017 Jun
• Impact of prenatal screening on the prevalence of Down syndrome in Slovenia.  
  Rudolf Gorazd et al. PloS one 2017 12(6) e0180348
• Towards a better understanding of preimplantation genetic screening for aneuploidy: insights from a virtual trial for women under the age of 40 when transferring embryos one at a time.  
  Scriven Paul N et al. Reproductive biology and endocrinology : RB&E 2017 Jun 15(1) 49
• Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.  
  Metcalfe Sylvia A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun

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.

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB