Published on 04/07/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Comparison of Outcome in Patients With Familial Versus Spontaneous Atrial Septal Defect.
Nielsen Anne Kathrine M et al. The American journal of cardiology 2022 -
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.
Hunter Jessica Ezzell et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Al-Jawahiri Reem et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living.
Randall Jason A et al. Orphanet journal of rare diseases 2022 17(1) 138
Cancer Genomics
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Prognostic and Predictive Value of Fibroblast Growth Factor Receptor Alterations in High-grade Non-muscle-invasive Bladder Cancer Treated with and Without Bacillus Calmette-Guérin Immunotherapy.
Mayr Roman et al. European urology 2022 -
Infigratinib in Patients with Recurrent Gliomas and FGFR Alterations: A Multicenter Phase II Study.
Lassman Andrew B et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2022 -
B2M and JAK1/2-mutated MSI-H Colorectal Carcinomas Can Benefit From Anti-PD-1 Therapy.
Zhang Chenzhi et al. Journal of immunotherapy (Hagerstown, Md. : 1997) 2022 -
CONCORDANCE: A real-world evidence study to evaluate the concordance of detecting epidermal growth factor receptor (EGFR) mutation by circulating tumor DNA* versus tissue biopsy in patients with metastatic non-small cell lung cancer.
Prabhash Kumar et al. Indian journal of cancer 2022 59(Supplement) S11-S18 -
Phase II Study of Selumetinib in Children and Young Adults With Tumors Harboring Activating Mitogen-Activated Protein Kinase Pathway Genetic Alterations: Arm E of the NCI-COG Pediatric MATCH Trial.
Eckstein Olive S et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2102840 -
Perspectives and Experiences of Parents and Adolescents Who Participate in a Pediatric Precision Oncology Program: "When You Feel Helpless, This Kind of Thing Is Very Helpful".
Waldman Larissa et al. JCO precision oncology 2022 6e2100444 -
Expert Consensus on the Use of Prognostic Gene Expression Profiling Tests for the Management of Cutaneous Melanoma: Consensus from the Skin Cancer Prevention Working Group.
Farberg Aaron S et al. Dermatology and therapy 2022 -
The immunohistochemical molecular risk classification in endometrial cancer: A pragmatic and high-reproducibility method.
Perrone Emanuele et al. Gynecologic oncology 2022 -
Comparative Effectiveness of Immune Checkpoint Inhibitors vs Chemotherapy by Tumor Mutational Burden in Metastatic Castration-Resistant Prostate Cancer.
Graf Ryon P et al. JAMA network open 2022 5(3) e225394 -
Are we closer to being able to select patients with node-positive hormone receptor-positive breast cancer who can safely omit chemotherapy?
Taylor Caitlin et al. Therapeutic advances in medical oncology 2022 1417588359221084769 -
FOLFOXIRI and bevacizumab in patients with early-onset metastatic colorectal cancer. A pooled analysis of TRIBE and TRIBE2 studies.
Antoniotti Carlotta et al. European journal of cancer (Oxford, England : 1990) 2022 16723-31 -
Clinical Utility of Genomic Profiling Tests in Patients with Advanced Gastrointestinal Cancers.
Takeda Hiroyuki et al. Targeted oncology 2022 -
Cost-Effectiveness of Tumor Genomic Profiling to Guide First-Line Targeted Therapy Selection in Patients With Metastatic Lung Adenocarcinoma.
Dong Olivia M et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2022 25(4) 582-594 -
Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics.
Doig Kenneth D et al. BMC medical genomics 2022 15(1) 70 -
Epidermal Growth Factor Receptor Inhibition in Epidermal Growth Factor Receptor-Amplified Gastroesophageal Cancer: Retrospective Global Experience.
Maron Steven B et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2102453
Hereditary Cancer
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Inherited risk assessment and its clinical utility for predicting prostate cancer from diagnostic prostate biopsies.
Xu Jianfeng et al. Prostate cancer and prostatic diseases 2022 -
BRCA mutations: Implications of genetic testing in ovarian cancer.
Talwar Vineet et al. Indian journal of cancer 2022 59(Supplement) S56-S67 -
Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program.
Bychkovsky Brittany L et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2022 -
Polygenic risk for prostate cancer: Decreasing relative risk with age but little impact on absolute risk.
Schaid Daniel J et al. American journal of human genetics 2022 -
Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.
Renault Anne-Laure et al. Breast cancer research : BCR 2022 24(1) 24 -
Distress facing increased genetic risk of cancer: The role of social support and emotional suppression.
Gomes Pedro et al. Patient education and counseling 2022
Chronic Disease
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A distinctive profile of family genetic risk scores in a Swedish national sample of cases of fibromyalgia, irritable bowel syndrome, and chronic fatigue syndrome compared to rheumatoid arthritis and major depression.
Kendler Kenneth S et al. Psychological medicine 2022 1-8
Ethics/Policy/Law
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Equity in Genomic Medicine.
Halbert Chanita Hughes et al. Annual review of genomics and human genetics 2022
Practice
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Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.
Venner Eric et al. Genome medicine 2022 14(1) 34 -
Establishing the Medical Actionability of Genomic Variants.
Goddard Katrina A B et al. Annual review of genomics and human genetics 2022 -
Genomics update 2022: Clinician and patient hot topics.
Wysocki Kenneth et al. Journal of the American Association of Nurse Practitioners 2022 34(4) 613-615 -
Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance.
Zhang Kuo et al. Frontiers in genetics 2022 13829728 -
Recommendations for reporting results of diagnostic genomic testing.
Deans Zandra C et al. European journal of human genetics : EJHG 2022 -
Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network.
Madden Jill A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Heart, Lung, Blood and Sleep Diseases
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Integrating clinical genetics in cardiology: Current practices and recommendations for education.
Scherr Courtney L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Retinal atrophy and markers of systemic and cerebrovascular severity in homozygous sickle cell disease.
Martin Gilles C et al. European journal of ophthalmology 2022 11206721221090794 -
Significance of borderline HbA levels in β thalassemia carrier screening.
Colaco Stacy et al. Scientific reports 2022 12(1) 5414 -
Electrocardiographic Findings, Arrhythmias, and Left Ventricular Involvement in Familial ST-Depression Syndrome.
Christensen Alex Hørby et al. Circulation. Arrhythmia and electrophysiology 2022 101161CIRCEP121010688 -
New Adjunct Therapy for Elevated Lipid Levels.
Aschenbrenner Diane S et al. The American journal of nursing 2022 122(4) 20 -
A landscape analysis and discussion of value of gene therapies for sickle cell disease.
Quach D et al. Expert review of pharmacoeconomics & outcomes research 2022 -
Advances in the Management of Sickle Cell Disease: New Concepts and Future Horizons.
Higgins Tara et al. The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG 2022 27(3) 206-213
Newborn Screening
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50 Years Ago in TheJournalofPediatrics: Newborn Screening for Sickle Cell Disease: A Promise (Un)Fulfilled.
Strumph Kaitlin et al. The Journal of pediatrics 2022 24368 -
Pain points in parents' interactions with newborn screening systems: a qualitative study.
Conway Mike et al. BMC pediatrics 2022 22(1) 167
Pharmacogenomics
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Pharmacogenomics of Hypertension in CKD: The CKD-PGX Study.
Eadon Michael T et al. Kidney360 2022 3(2) 307-316 -
Combining familial hypercholesterolemia and statin genetic studies as a strategy for the implementation of pharmacogenomics. A multidisciplinary approach.
Ramudo-Cela Luis et al. The pharmacogenomics journal 2022 -
Opportunities for personalizing colorectal cancer care: an analysis of SEER-medicare data.
Rivers Zachary T et al. The pharmacogenomics journal 2022 -
Genetic Variants Associated with Adverse Events after Angiotensin-Converting Enzyme Inhibitor Use: Replication after GWAS-Based Discovery.
Lee Chan Joo et al. Yonsei medical journal 2022 63(4) 342-348 -
Implementation of pharmacogenomic clinical decision support for health systems: a cost-utility analysis.
Jiang Shangqing et al. The pharmacogenomics journal 2022
Reproductive Health
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Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review.
Richardson Ebony et al. European journal of human genetics : EJHG 2022 -
A review of normative documents on preimplantation genetic testing: Recommendations for PGT-P.
Siermann Maria et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
First Trimester Ultrasound in the Age of Cell-Free DNA Screening: What Are We Missing?
Ramdaney Aarti et al. Prenatal diagnosis 2022