Published on 10/05/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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How do providers discuss the results of pediatric exome sequencing with families?
Walser Sarah A et al. Personalized medicine 2017 Sep 14(5) 409-422 -
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
Chaiyasap Pongsathorn et al. BMC medical genetics 2017 Sep 18(1) 102 -
Reduction in the number of CGG repeats on the FMR1 gene in carriers of genetic disorders versus noncarriers.
Peyser Alexandra et al. JBRA assisted reproduction 2017 Oct -
Sharon Terry: When Siblings Get A Rare Diagnosis, Can Their Parents Find the Cure?
National Public Radio, Sep 29, 2017 -
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
Romasko Edward J et al. American journal of hematology 2017 Sep -
Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.
January Kathleen et al. American journal of medical genetics. Part C, Seminars in medical genetics 2016 Jun 172(2) 237-45 -
Clinical and molecular correlates in fragile X premutation females.
Jiraanont Poonnada et al. eNeurologicalSci 2017 Jun 749-56 -
Down Syndrome Awareness Month
CDC Feature, October 2, 2017 -
Sickle Cell Disease: What You Should Know
CDC podcast, 2017 -
Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening.
Gorrie Anita et al. Journal of community genetics 2017 Oct -
Genetic Testing in Pediatric Ophthalmology.
Verma Ishwar Chander et al. Indian journal of pediatrics 2017 Oct -
Automated screening for Fragile X premutation carriers based on linguistic and cognitive computational phenotypes.
Movaghar Arezoo et al. Scientific reports 2017 Jun 7(1) 2674 -
Comprehensive Platelet Phenotypic Laboratory Testing and Bleeding History Scoring for Diagnosis of Suspected Hereditary Platelet Disorders: A Single-Institution Experience.
Perez Botero Juliana et al. American journal of clinical pathology 2017 Jul 148(1) 23-32 -
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Pfundt Rolph et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun 19(6) 667-675 -
Perspectives and Practices of Athletic Trainers and Team Physicians Implementing the 2010 NCAA Sickle Cell Trait Screening Policy.
McDonald Mary Anne et al. Journal of genetic counseling 2017 Jun -
Predicted v. real prevalence of the 22q11.2 deletion syndrome in children with congenital heart disease presenting to Red Cross War Memorial Children's Hospital, South Africa: A prospective study.
De Decker R et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2016 May 106(6 Suppl 1) S82-6 -
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ellingford Jamie M et al. Ophthalmology 2016 May 123(5) 1143-50 -
The Heritability of Autism Spectrum Disorder
Sandin Sven et al. JAMA 2017 Sep 318(12) 1182-1184 -
A Time to Sequence
Baxter Sarah K et al. JAMA pediatrics 2017 Oct e173435 -
DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center.
van Engelen Kalene et al. Pediatric blood & cancer 2017 Sep
Cancer
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Precision Oncology: Who, How, What, When, and When Not?
Schwartzberg Lee et al. American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Meeting 2017 37160-169 -
Identification of BRCA1 and BRCA2 Mutation Carriers Through a Traceback Framework: Consent, Privacy, and Autonomy.
Schwartz Marc D et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Jul 35(20) 2226-2228 -
Issues of concern in risk assessment, genetic counseling, and genetic testing of younger breast cancer patients in Japan.
Bando Hiroko et al. Breast cancer (Tokyo, Japan) 2014 Nov 21(6) 656-63 -
Living With Genetic Vulnerability: a Life Course Perspective.
Hamilton Rebekah J et al. Journal of genetic counseling 2016 Feb 25(1) 49-61 -
Maximising survival: the main concern of women with hereditary breast and ovarian cancer who undergo genetic testing for BRCA1/2.
Jeffers Lisa et al. European journal of oncology nursing : the official journal of European Oncology Nursing Society 2014 Aug 18(4) 411-8 -
Medical mistrust influences black women's level of engagement in BRCA 1/2 genetic counseling and testing.
Sheppard Vanessa B et al. Journal of the National Medical Association 2013 105(1) 17-22 -
[Present status and tasks for genetic testing and risk-reducing surgery in patients with hereditary breast and ovarian cancer].
Arai Masami et al. Gan to kagaku ryoho. Cancer & chemotherapy 2012 Apr 39(4) 525-31 -
Psychometric testing of the decisional conflict scale: genetic testing hereditary breast and ovarian cancer.
Katapodi Maria C et al. Nursing research 60(6) 368-77 -
RAS testing of liquid biopsy correlates with the outcome of metastatic colorectal cancer patients treated with first-line FOLFIRI plus cetuximab in the CAPRI-GOIM trial.
Normanno N et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Aug -
RAS testing practices and RAS mutation prevalence among patients with metastatic colorectal cancer: results from a Europe-wide survey of pathology centres.
Boleij Annemarie et al. BMC cancer 2016 Oct 16(1) 825 -
Risk of Serous Endometrial Carcinoma in Women With Pathogenic BRCA1/2 Variant After Risk-Reducing Salpingo-Oophorectomy.
Saule Claire et al. Journal of the National Cancer Institute 2018 Feb 110(2) -
Immunotherapy Response Predicted by Liquid Biopsy
GEN News Highlight, Oct 2, 2017 -
How a genetic mutation made this cancer survivor her own best advocate
BS Finer, The Philadelphia Inquirer, October 2, 2017 -
Screening Mammography for Women in Their 40s: The Potential Impact of the American Cancer Society and U.S. Preventive Services Task Force Breast Cancer Screening Recommendations.
Pitman Jenifer A et al. AJR. American journal of roentgenology 2017 Sep 209(3) 697-702 -
A Systematic Review on the Existing Screening Pathways for Lynch Syndrome Identification.
Tognetto Alessia et al. Frontiers in public health 2017 5243 -
TP53 mutation does not confer a poor outcome in adult patients with acute lymphoblastic leukemia who are treated with frontline hyper-CVAD-based regimens.
Kanagal-Shamanna Rashmi et al. Cancer 2017 Oct 123(19) 3717-3724 -
Updating and refining a study brochure for a cancer registry-based study of BRCA mutations among young African American breast cancer patients: lessons learned.
Vadaparampil Susan T et al. Journal of community genetics 2010 Jun 1(2) 63-71 -
Mutation testing for directing upfront targeted therapy and post-progression combination therapy strategies in lung adenocarcinoma.
Salgia Ravi et al. Expert review of molecular diagnostics 2016 Jul 16(7) 737-49 -
Preferences for hereditary breast and ovarian cancer information among Mexican, Cuban and Puerto Rican women at risk.
Quinn Gwendolyn P et al. Public health genomics 2011 14(4-5) 248-58 -
Cancer DNA in the Circulation: The Liquid Biopsy
Husain Hatim et al. JAMA 2017 Oct 318(13) 1272-1274 -
What Black Women Know and Want to Know About Counseling and Testing for BRCA1/2.
Adams Inez et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2015 Jun 30(2) 344-52 -
Copy Number Profiling of MammaPrint™ Genes Reveals Association with the Prognosis of Breast Cancer Patients.
Fatima Areej et al. Journal of breast cancer 2017 Sep 20(3) 246-253 -
Decision impact and feasibility of different ASCO-recommended biomarkers in early breast cancer: Prospective comparison of molecular marker EndoPredict and protein marker uPA/PAI-1.
Ettl Johannes et al. PloS one 2017 12(9) e0183917 -
The Effect of Reproductive Factors on Breast Cancer Presentation in Women Who Are BRCA Mutation Carrier.
Kim Ju-Yeon et al. Journal of breast cancer 2017 Sep 20(3) 279-285 -
Precision Oncology: The Road Ahead.
Senft Daniela et al. Trends in molecular medicine 2017 Sep -
These moms have the BRCA gene mutation. Heres how it affects their parenting.
Washington Post, Sep 30, 2017 -
Genetic testing in a population-based sample of breast and ovarian cancer survivors from the REACH randomized trial: Cost barriers and moderators of counseling mode.
Steffen Laurie E et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017 Sep -
Identification and Management of TP53 Gene Carriers Detected Through Multigene Panel Testing.
Pal Tuya et al. Southern medical journal 2017 Oct 110(10) 643-648 -
Associations between use of the 21-gene recurrence score assay and chemotherapy regimen selection in a statewide registry.
Henry N Lynn et al. Cancer 2017 May 123(6) 948-956 -
Clinical decisions surrounding genomic and proteomic testing among United States veterans treated for lung cancer within the Veterans Health Administration.
Efimova Olga et al. BMC medical informatics and decision making 2017 May 17(1) 71 -
Determinants of adherence to recommendations for cancer prevention among Lynch Syndrome mutation carriers: A qualitative exploration.
Visser Annemiek et al. PloS one 2017 12(6) e0178205 -
Genetic counseling for hereditary cancer: A primer for NPs.
McReynolds Kate et al. The Nurse practitioner 2017 Jul 42(7) 22-28 -
Hereditary and non-hereditary branches of family eligible for BRCA test: cancers in other sites.
Digennaro M et al. Hereditary cancer in clinical practice 2017 157 -
The Importance of Family History in Breast Cancer Patients in Primary Care Setting: a Cross-sectional Study.
Kartal Mehtap et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2017 Jun -
Validation of a scale for assessing attitudes towards outcomes of genetic cancer testing among primary care providers and breast specialists.
Bouhnik Anne-Deborah et al. PloS one 2017 12(6) e0178447 -
Value-Based Medicine and Integration of Tumor Biology.
Brooks Gabriel A et al. American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Meeting 2017 37833-840 -
Video Education on Hereditary Breast and Ovarian Cancer (HBOC) for Physicians: an Interventional Study.
Krishnamachari Bhuma et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2017 Jun -
[Willingness of Students of Economics to Pay for Predictive Oncological Genetic Testing - An Empirical Analysis].
Siol V et al. Gesundheitswesen (Bundesverband der Arzte des Offentlichen Gesundheitsdienstes (Germany)) 2017 May 79(5) 425-437 -
Clinical utility of emerging liquid biomarkers in advanced prostate cancer.
Vandekerkhove Gillian et al. Cancer genetics 2017 Aug -
Implementation and utilization of the molecular tumor board to guide precision medicine.
Harada Shuko et al. Oncotarget 2017 Aug 8(34) 57845-57854 -
Detection of mutant KRAS and TP53 DNA in circulating exosomes from healthy individuals and patients with pancreatic cancer.
Yang Sujuan et al. Cancer biology & therapy 2017 Mar 18(3) 158-165 -
Development of a brochure for increasing awareness of inherited breast cancer in black women.
Vadaparampil Susan T et al. Genetic testing and molecular biomarkers 15(1-2) 59-67 -
Development of a culturally tailored genetic counseling booklet about hereditary breast and ovarian cancer for Black women.
Permuth-Wey Jennifer et al. American journal of medical genetics. Part A 2010 Apr 152A(4) 836-45 -
Differences between women who pursued genetic testing for hereditary breast and ovarian cancer and their at-risk relatives who did not.
Katapodi Maria C et al. Oncology nursing forum 2011 Sep 38(5) 572-81 -
Final report of the Committee on Gynecologic Oncology, the Japan Society of Obstetrics and Gynecology, on a fact-finding questionnaire on the status of treatment of hereditary breast and ovarian cancer syndrome in Japan.
Satoh Toyomi et al. The journal of obstetrics and gynaecology research 2017 Sep 43(9) 1377-1380 -
Hereditary breast/ovarian cancer syndrome: a primer for obstetricians/gynecologists.
Meaney-Delman Dana et al. Obstetrics and gynecology clinics of North America 2013 Sep 40(3) 475-512 -
Comprehensive genomic profiling of lung cancer using a validated panel to explore therapeutic targets in East Asian patients.
Liu Liping et al. Cancer science 2017 Sep -
Genetic Testing for Cancer: Beyond BRCA,
Kaylene Ready, Huff Post, September 27, 2017 -
Correlation of DNA Repair Gene Polymorphisms With Clinical Outcome in Patients With Locally Advanced Non-Small-Cell Lung Cancer Receiving Induction Chemotherapy Followed by Surgery.
Santarpia Mariacarmela et al. Clinical lung cancer 2017 Mar 18(2) 178-188.e4 -
[Current clinical issues and recent trends in hereditary breast and ovarian cancer in Japan-genetic testing for HBOC and risk-reducing surgery].
Arai Masami et al. Gan to kagaku ryoho. Cancer & chemotherapy 2014 Nov 41(11) 1333-9 -
Preferences for multigene panel testing for hereditary breast cancer risk among ethnically diverse BRCA-uninformative families.
Vicuña Belinda et al. Journal of community genetics 2017 Oct -
Screening for Colorectal Cancer Using a Multitarget Stool DNA Test: Modeling the Effect of the Intertest Interval on Clinical Effectiveness.
Berger Barry M et al. Clinical colorectal cancer 2016 Sep 15(3) e65-74 -
The Use of Translational Research Platforms in Clinical and Biomedical Data Exploration.
Skolariki Konstantina et al. Advances in experimental medicine and biology 2017 988301-311
Chronic Disease
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The highly anxious individual presenting for Huntington disease-predictive genetic testing: the psychiatrist's role in assessment and counseling.
Groves Mark et al. Handbook of clinical neurology 2017 14499-105 -
The impact of Huntington disease on young people.
Ellison Matthew et al. Handbook of clinical neurology 2017 144179-182 -
Nutrition, Genes, and Age-Related Macular Degeneration: What Have We Learned from the Trials?
Chew Emily Y et al. Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 2017 238(1-2) 1-5 -
Patients' Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers.
Mulhern Maureen et al. Journal of genetic counseling 2017 Sep -
Multigene Test a Better Alzheimer's Predictor than APOE E4
Clinical Omics, Sep 26, 2017 -
Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.
Nakayama Manabu et al. Biochemistry and biophysics reports 2017 Mar 9146-152 -
Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel.
Bevilacqua Jen et al. Journal of genetics 2017 Sep 96(4) 681-685 -
Evaluation of the Informational Content, Readability and Comprehensibility of Online Health Information on Monogenic Diabetes.
Guan Yue et al. Journal of genetic counseling 2017 Sep -
Genetic testing for Huntington disease.
Quaid Kimberly A et al. Handbook of clinical neurology 2017 144113-126 -
Clinicians' attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease.
De Rechter Stéphanie et al. PloS one 2017 12(9) e0185779
Ethics/Policy/Law
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As Consumer DNA Testing Grows, Two States Resist
E Mullin, MIT Tech Review, Sep 28, 2017
Practice
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Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic.
Nicol Dianne et al. Genome medicine 2017 Sep 9(1) 85 -
A Research Agenda for Communication Scholars in the Precision Medicine Era.
Scherr Courtney L et al. Journal of health communication 2017 Sep 1-10 -
Scientific-practical and legal problems of implementation of the personalized medicine.
Bezdieniezhnykh N O et al. Experimental oncology 2017 Sep 39(3) 229-233 -
Precision Medicine Is Not Just Genomics: The Right Dose for Every Patient.
Peck Richard et al. Annual review of pharmacology and toxicology 2017 Sep -
Personal Genetic Testing Is Here. Do We Need It?
By Anahad O'Connor, New York Times, October 3, 2017 -
When bins blur: Patient perspectives on categories of results from clinical whole genome sequencing.
Jamal Leila et al. AJOB empirical bioethics 8(2) 82-88 -
Applying Family Analyses to Electronic Health Records to Facilitate Genetic Research.
Huang Xiayuan et al. Bioinformatics (Oxford, England) 2017 Sep -
The challenges of the expanded availability of genomic information: an agenda-setting paper.
Borry Pascal et al. Journal of community genetics 2017 Sep -
A clinical approach to genetic testing for non-specialists.
Semsarian Christopher et al. BMJ (Clinical research ed.) 2017 Sep 358j4101
Heart, Lung, Blood and Sleep Diseases
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Is ACS in Young Patients a "Canary in the Coal Mine" for Familial Hypercholesterolemia?
Knowles Joshua W et al. Journal of the American College of Cardiology 2017 Oct 70(14) 1741-1743 -
Provider understanding of the 2013 ACC/AHA cholesterol guideline.
Virani Salim S et al. Journal of clinical lipidology 10(3) 497-504.e4 -
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
Pirillo Angela et al. Atherosclerosis. Supplements 2017 Oct 2917-24 -
Genetic Risk Stratification and Prevention of CAD: An Idea Whose Time Is Now.
Roberts Robert et al. Clinical chemistry 2017 Sep -
Clinical and Genetic Diagnosis of Nonischemic Sudden Cardiac Death.
Jiménez-Jáimez Juan et al. Revista espanola de cardiologia (English ed.) 2017 Oct 70(10) 808-816 -
Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN).
Averna Maurizio et al. Atherosclerosis. Supplements 2017 Oct 2911-16 -
Genetic diagnosis of familial hypercholesterolemia in Han Chinese.
Chiou Kuan-Rau et al. Journal of clinical lipidology 10(3) 490-6 -
Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Fedida Joel et al. PloS one 2017 12(8) e0181840 -
Detecting familial hypercholesterolemia by serum lipid profile screening in a hospital setting: Clinical, genetic and atherosclerotic burden profile.
Scicali R et al. Nutrition, metabolism, and cardiovascular diseases : NMCD 2017 Jul -
Detection of familial hypercholesterolemia in patients from a general practice database.
Casula Manuela et al. Atherosclerosis. Supplements 2017 Oct 2925-30
Newborn Screening
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Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.
Lilleväli Hardo et al. JIMD reports 2017 Sep -
Neonatal screening for biotinidase deficiency: A 30-year single center experience.
Porta Francesco et al. Molecular genetics and metabolism reports 2017 Dec 1380-82 -
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng Linyan et al. JAMA pediatrics 2017 Oct e173438
Pharmacogenomics
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Misleading Guidance From Pharmacogenomic Testing.
Rahman Tahir et al. The American journal of psychiatry 2017 Oct 174(10) 922-924 -
Simplifying the Use of Pharmacogenomics in Clinical Practice: Building the Genomic Prescribing System.
Danahey Keith et al. Journal of biomedical informatics 2017 Sep -
Knowledge, Attitude, and Perceptions of Pharmacists and Pharmacy Students towards Pharmacogenomics in Zimbabwe.
Muzoriana Nyasha et al. Pharmacy (Basel, Switzerland) 2017 Jun 5(3) -
Incorporation of Herbal Supplements into a Pharmacogenomic Medication Therapy Management Practice.
Wieruszewski Patrick M et al. The Consultant pharmacist : the journal of the American Society of Consultant Pharmacists 2017 Feb 32(2) 99-104 -
Tackling the Opioid Crisis: Genetic testing to identify addiction risk,
by Anna MacDonald, Technology Networks, October 3, 2017 -
The Challenges of Implementing Pharmacogenomic Testing in the Clinic.
Moyer Ann M et al. Expert review of pharmacoeconomics & outcomes research 2017 Sep -
Genome Sequence Variability Predicts Drug Precautions and Withdrawals from the Market.
Lee Kye Hwa et al. PloS one 11(9) e0162135 -
Cost effectiveness analysis of HLA-B*58:01 genotyping prior to initiation of allopurinol for gout.
Plumpton Catrin O et al. Rheumatology (Oxford, England) 2017 Oct 56(10) 1729-1739
Reproductive Health
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Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions.
Finucane Brenda et al. Prenatal diagnosis 2017 Jan 37(1) 37-42 -
Detection of trisomies 13, 18 and 21 using non-invasive prenatal testing.
Qiang Rong et al. Experimental and therapeutic medicine 2017 May 13(5) 2304-2310 -
Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples.
Ghiossi Caroline E et al. Journal of genetic counseling 2017 Sep -
Comparative preimplantation genetic diagnosis policy in Europe and the USA and its implications for reproductive tourism.
Bayefsky Michelle J et al. Reproductive biomedicine & society online 2016 Dec 341-47 -
Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer.
Derks-Smeets I A P et al. Human reproduction (Oxford, England) 2014 May 29(5) 1103-12