Published on 07/06/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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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.
Adachi Takeya, et al. European journal of human genetics : EJHG 2017 0 0. (9) 1025-1028 -
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 -
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
Paderová J et al. Clinical genetics 2016 Sep 90(3) 230-7
Cancer
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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
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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
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The Benefits and Challenges of Preconsent in a Multisite, Pediatric Sickle Cell Intervention Trial.
Nimmer Mark et al. Pediatric blood & cancer 2016 Sep 63(9) 1649-52 -
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
Practice
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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 patientÂ’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 -
Biomarker Tests for Molecularly Targeted Therapies: Laying the Foundation and Fulfilling the Dream.
Lyman Gary H et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Jun 34(17) 2061-6 -
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
Heart, Lung, Blood and Sleep Diseases
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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
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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
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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