Publication Date: Mar 28, 2018
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. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON .
Galvez-Ruiz Alberto et al. Neuro-ophthalmology (Aeolus Press) 2018 Apr 42(2) 73-82 - Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.
Palmer Lisa D et al. American journal of medical genetics. Part A 2018 Apr 176(4) 936-944 - The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review.
Vo Oanh Kieu et al. American journal of medical genetics. Part A 2018 Mar - Genomics for paediatricians: promises and pitfalls.
Hammond Carrie Louise et al. Archives of disease in childhood 2018 Mar - Genetics of non-syndromic craniosynostosis.
Timberlake Andrew T et al. Plastic and reconstructive surgery 2018 Mar - 'Life-changing' genomics treatment for girl with rare disorder dystonia
Rte, Mar 27, 2018 - 13-Year-Old Boy Is First Person in US to Receive Newly Approved Gene Therapy for Blindness
KV Brown, Gizmodo, Mar 22, 2018 - Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.
Powis Zöe et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar - Chromosomal Microarray: Application for Congenital Heart Diseases.
Ko Jung Min et al. Korean circulation journal 2018 48(3) 233-235 - Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
Bush Lynn W et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar - Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping.
Lovrecic Luca et al. Journal of applied genetics 2018 Mar - Family adjustment to diabetes diagnosis in children: Can participation in a study on type 1 diabetes genetic risk be helpful?
Smith Laura B et al. Pediatric diabetes 2018 Mar - Progress in the genetics of autism spectrum disorder.
Woodbury-Smith Marc et al. Developmental medicine and child neurology 2018 Mar - Children and young people's understanding of inherited conditions and their attitudes towards genetic testing: A systematic review.
McGill B C et al. Clinical genetics 2018 Mar
Cancer
- How to make a ‘BRCA aware’ man
Finding Cyril Blog, Mar 26, 2018 - Precision medicine in the adjuvant treatment of gastric cancer.
Gambardella Valentina et al. The Lancet. Oncology 2018 Mar - Hospitals 'failing' on genetic bowel cancer test
BBC News, Mar 26, 2018 - Combined effect of ERCC1 and ERCC2 polymorphisms on overall survival in non-squamous non-small-cell lung cancer patients treated with first-line pemetrexed/platinum.
Liao Wei-Yu et al. Lung cancer (Amsterdam, Netherlands) 2018 Apr 11890-96 - Acquired Resistance to Tyrosine Kinase Inhibitors in Non-Small Cell Lung Cancers: The Role of Next-Generation Sequencing on Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration Samples.
Guerini-Rocco Elena et al. Archives of pathology & laboratory medicine 2018 Apr 142(4) 465-473 - The Role of Next-Generation Sequencing in the Cytologic Diagnosis of Pancreatic Lesions.
de Biase Dario et al. Archives of pathology & laboratory medicine 2018 Apr 142(4) 458-464 - The microbiome in cancer immunotherapy: Diagnostic tools and therapeutic strategies.
Zitvogel Laurence et al. Science (New York, N.Y.) 2018 359(6382) 1366-1370 - The Cancer Immunotherapy Revolution
PN Kelly, Science, Mar 22, 2018 - Genome Culture: Redefining Health-Risk Testing: Approval of a direct-to-consumer BRCA test may be a giant step forward for company, and a giant step back for breast cancer susceptibility testing.
L Hercher, Genome Magazine, Mar 22, 2018 - Germline & somatic genetic testing in ovarian cancer patients.
Chandrasekaran Dhivya et al. BJOG : an international journal of obstetrics and gynaecology 2018 Mar - Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.
Schneider Nayê Balzan et al. Cancer medicine 2018 Mar - Alcohol consumption and early-onset risk of colorectal cancer in Japanese patients with Lynch syndrome: a cross-sectional study conducted by the Japanese Society for Cancer of the Colon and Rectum.
Miguchi Masashi et al. Surgery today 2018 Mar - Precision Medicine for CRC Patients in the Veteran Population: State-of-the-Art, Challenges and Research Directions.
Mohapatra Shyam S et al. Digestive diseases and sciences 2018 Mar - Relationship between individual and family characteristics and psychosocial factors in persons with familial pancreatic cancer.
Underhill Meghan et al. Psycho-oncology 2018 Mar - First-degree relatives of cancer patients: a target group for primary prevention? A cross-sectional study.
Haug Ulrike et al. British journal of cancer 2018 Mar - Use of the Ion PGM and the GeneReader NGS Systems in Daily Routine Practice for Advanced Lung Adenocarcinoma Patients: A Practical Point of View Reporting a Comparative Study and Assessment of 90 Patients.
Heeke Simon et al. Cancers 2018 Mar 10(4) - Utility of cell-free nucleic acid and circulating tumor cell analyses in prostate cancer.
Gourdin Theodore et al. Asian journal of andrology 2018 Mar - The Emotional Toll of Post-Diagnosis Genetic Testing
W Baer, WebMD Blog, Mar 2018 - Patients' experiences and preferences for opt-in models and health professional involvement in biobanking consent: A cross-sectional survey of Australian cancer outpatients.
Fradgley Elizabeth A et al. Asia-Pacific journal of clinical oncology 2018 Mar - How Scientists are Looking to Expand the Benefits of Immunotherapy
Dana Farber Blog, Mar 22, 2018 - Automated decision tree to evaluate genetic abnormalities when determining prognostic risk in acute myeloid leukemia.
Watanabe-Smith Kevin et al. Haematologica 2018 Mar - Germline breast cancer susceptibility gene mutations and breast cancer outcomes.
Wang Yong Alison et al. BMC cancer 2018 Mar 18(1) 315 - Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.
Wang Xia et al. Genes, chromosomes & cancer 2018 Jan 57(1) 19-27 - Systematic identification of functionally relevant risk alleles to stratify aggressive versus indolent prostate cancer.
Nowinski Salpie et al. Oncotarget 2018 Feb 9(16) 12812-12824 - Colorectal cancer beliefs, knowledge, and screening among Filipino, Hmong, and Korean Americans.
Tran Mi T et al. Cancer 2018 Apr 124 Suppl 71552-1559 - Genetic Risk Score is Associated With Prevalence of Advanced Neoplasms in a Colorectal Cancer Screening Population.
Weigl Korbinian et al. Gastroenterology 2018 Mar - Impact of Cognitive Load on Family Decision Makers' Recall and Understanding of Donation Requests for the Genotype-Tissue Expression (GTEx) Project.
Siminoff Laura A et al. The Journal of clinical ethics 2018 29(1) 20-30 - Molecular Screening of Small Biopsy Samples Using Next-Generation Sequencing in Korean Patients with Advanced Non-small Cell Lung Cancer: Korean Lung Cancer Consortium (KLCC-13-01).
Ku Bo Mi et al. Journal of pathology and translational medicine 2018 Mar
Chronic Disease
- Genetic Counselling and Narrative Practices: A Model of Support following a "Negative" Predictive Test for Huntington's Disease.
MacLeod Rhona et al. Journal of Huntington's disease 2018 Mar - Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany.
Halbritter Jan et al. Frontiers in pediatrics 2018 647 - Precision Medicine in Chronic Rhinosinusitis with Nasal Polyps.
Avdeeva Klementina et al. Current allergy and asthma reports 2018 Mar 18(4) 25 - CRISPR/Cas9 Technology as an Emerging Tool for Targeting Amyotrophic Lateral Sclerosis (ALS).
Kruminis-Kaszkiel Ewa et al. International journal of molecular sciences 2018 Mar 19(3) - Leveraging the Power of Genetics to Bring Precision Medicine to Psychiatry: Too Little of a Good Thing?
Moreno-De-Luca Daniel et al. Biological psychiatry 2018 Apr 83(8) e45-e46
Ethical, Legal and Social Issues (ELSI)
- How Genetics Is Changing Our Understanding of ‘Race’
D Reich, New York Times, Mar 23, 2018 - Interested in responsible gene editing? Join the (new) club
M Enserink, Science Magazine, Mar 28, 2018 - Is direct-to-consumer genetic testing reifying race?
T Caulfield, the Cure, Mar 22, 2018 - The Right Not to Know: When Ignorance Is Bliss but Deadly
AM Clausen, Pultizer Center, Mar 20, 2018 - The FDA says you can now test yourself for cancer at home without a doctor. Here's why you shouldn't.
D Ropeik, NBC News Blog, Mar 23, 2018
General Practice
- Genetic counseling globally: Where are we now?
Ormond Kelly E et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Mar - Does Genome Sequencing Increase Downstream Medical Costs?
Brigham Health, Mar 22, 2018 - Technology in Practice Special Issue
J Genetics Counseling, April 2018 - Estonia offers 100,000 citizens free genetic testing
Insights, HIMSS Europe, Mar 20, 2018 - Does genome sequencing increase downstream costs?
EurekAlert, March 22, 2018 - Sequencing patients’ genomes might not break the health care bank, study finds
S Begley, StatNews, Mar 22, 2018 - Genomics-an aid to diagnosis not a replacement.
Torjesen Ingrid et al. BMJ (Clinical research ed.) 2018 360k1267 - Keeping the genetic code,
- Genome Database of the Latvian Population (LGDB): Design, Goals, and Primary Results.
Rovite Vita et al. Journal of epidemiology 2018 Mar - Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations
JJ Salk et al, Nat Rev Genetics, Mar 2018 - Response to Commercial Genetic Testing and the Future of the Genetic Counseling Profession.
Goodenberger McKinsey L et al. Journal of genetic counseling 2018 Mar - Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.
Alfares Ahmed et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar - Analysis of state laws on informed consent for clinical genetic testing in the era of genomic sequencing.
Spector-Bagdady Kayte et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Mar - Biomedical Informatics and Machine Learning for Clinical Genomics.
Diao James et al. Human molecular genetics 2018 Mar - False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.
Tandy-Connor Stephany et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar - Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial.
Christensen Kurt D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar - Clinical genetic counselors: An asset in the era of precision medicine.
Wicklund Catherine A L et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Mar - Genetic counseling among minority populations in the era of precision medicine.
Halbert Chanita H et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Mar
Heart, Lung, Blood and Sleep Diseases
- Hemophilia groups warned of 5 deaths among patients taking Roche’s big new blockbuster Hemlibra
J Carroll, Endpoints News, Mar 28, 2018 - Severely elevated cholesterol often goes untreated
L Rapaport, Reuters news, Mar 26, 2018 - Familial Hypercholesterolemia is Common and Undertreated in the United States
EM Bucholz et al, CDC Blog Post, Mar 26, 2018 - Identifying Factors Underlying the Decision for Sickle Cell Carrier Screening Among African Americans Within Middle Reproductive Age.
Mayo-Gamble Tilicia L et al. Journal of genetic counseling 2018 Mar - Familial hypertrophic cardiomyopathy - Identification of cause and risk stratification through exome sequencing.
Biswas Amitabh et al. Gene 2018 Mar - Genetic Evaluation of Cardiomyopathy - a Heart Failure Society of America Practice Guideline.
Hershberger Ray E et al. Journal of cardiac failure 2018 Mar - A Path to Hope for Sickle Cell Disease: ‘First in Human’ patient tells her story
NIH-MedlinePlus, Winter 2018 - Sickle cell disease in southwestern Nigeria: assessment of knowledge of primary health care workers and available facilities.
Adegoke Samuel A et al. Transactions of the Royal Society of Tropical Medicine and Hygiene 2018 Mar - Genetic cardiomyopathies.
Wilcox Jane E et al. Current opinion in cardiology 2018 Mar - Characteristics and clinical assessment of unexplained sudden cardiac arrest in the real-world setting: focus on idiopathic ventricular fibrillation.
Waldmann Victor et al. European heart journal 2018 Mar - Prevalence, management, and outcomes of familial hypercholesterolemia in patients with acute coronary syndromes in the Arabian Gulf.
Al-Rasadi Khalid et al. Journal of clinical lipidology 2018 Feb - Blood biomarkers in chronic airways diseases and their role in diagnosis and management.
van Bragt Job J M H et al. Expert review of respiratory medicine 2018 Mar
Newborn Screening
- Strategies for newborn screening for cystic fibrosis: A systematic review of health economic evaluations.
Schmidt Masja et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Mar
Pharmacogenomics
- Understanding human genetic factors influencing primaquine safety and efficacy to guide primaquine roll-out in a pre-elimination setting in southern Africa.
Awandu Shehu S et al. Malaria journal 2018 Mar 17(1) 120 - Pharmacogenetics and the treatment of chronic myeloid leukemia: how relevant clinically? An update.
Ankathil Ravindran et al. Pharmacogenomics 2018 Mar - Future directions in pharmacogenomics discovery in cardiovascular disease.
Friede Kevin A et al. Pharmacogenomics 2018 Mar - Antiplatelet therapy: Pharmacogenomic approach to tailor drug therapy.
Lim Gregory B et al. Nature reviews. Cardiology 2018 Mar - Evaluation of CYP2C9 - and VKORC1 -based pharmacogenetic algorithm for warfarin dose in Gaza-Palestine.
Ayesh Basim Mohammad et al. Future science OA 2018 Mar 4(3) FSO276 - Drug-Induced Skin Adverse Reactions: The Role of Pharmacogenomics in Their Prevention.
Gerogianni Kalliopi et al. Molecular diagnosis & therapy 2018 Mar - A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH).
De Paolis Elisa et al. Clinica chimica acta; international journal of clinical chemistry 2018 Mar - Changing vision: a review of pharmacogenetic studies for treatment response in age-related macular degeneration patients.
Arslan Janan et al. Pharmacogenomics 2018 Mar
Reproductive Health
- The use of preimplantation genetic testing for aneuploidy (PGT-A): a committee opinion.
et al. Fertility and sterility 2018 Mar 109(3) 429-436 - Deciding on cystic fibrosis carrier screening: three citizens' juries and an online survey.
Mosconi Paola et al. European journal of public health 2018 Mar - Is prenatal genomic testing ready for prime time?
Adam Margaret P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar - Managing Couple Conflict During Prenatal Counseling Sessions: An Investigation of Genetic Counselor Experiences and Perceptions.
Schoeffel Kara et al. Journal of genetic counseling 2018 Mar
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.
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