Published on 09/22/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks.
Pehrsson Minja et al. Molecular genetics and metabolism reports 2022 33100911 -
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
van der Sanden Bart P G H et al. European journal of human genetics : EJHG 2022
Cancer Genomics
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Sputum cell-free DNA for detection of alterations of multiple driver genes in lung adenocarcinoma.
Wang Zheng et al. Cancer cytopathology 2022 -
Optimising tissue acquisition and the molecular testing pathway for patients with non-small cell lung cancer: A UK expert consensus statement.
Navani Neal et al. Lung cancer (Amsterdam, Netherlands) 2022 172142-153 -
Treatment Patterns of Real-World Patients with TRK Fusion Cancer Treated by US Community Oncologists.
Klink Andrew J et al. Targeted oncology 2022 -
Clinical Utility of Comprehensive Genomic Profiling Tests for Advanced or Metastatic Solid Tumor in Clinical Practice.
Ida Hanae et al. Cancer science 2022 -
The prognostic value and multiomic features of m6A-related risk signature in lung adenocarcinoma.
Wang Xiangcheng et al. American journal of translational research 2022 14(8) 5379-5393 -
Molecular Tumor Board-Assisted Care in an Advanced Cancer Population: Results of a Phase II Clinical Trial.
Miller Rachel W et al. JCO precision oncology 2022 6e2100524 -
The Utility of Breast Cancer Index (BCI) Over Clinical Prognostic Tools for Predicting the Need for Extended Endocrine Therapy: A Safety Net Hospital Experience.
Shah Sidrah et al. Clinical breast cancer 2022 -
Mast Cell Leukemia: Clinical and Molecular Features and Survival Outcomes of Patients in the ECNM Registry.
Kennedy Vanessa E et al. Blood advances 2022 -
Complementary Roles for Tissue- and Blood-Based Comprehensive Genomic Profiling for Detection of Actionable Driver Alterations in Advanced NSCLC.
Schwartzberg Lee S et al. JTO clinical and research reports 2022 3(9) 100386 -
Survival Prediction of Stomach Cancer Using Expression Data and Deep Learning Models with Histopathological Image.
Wei Ting et al. Cancer science 2022 -
Asia-Pacific Colorectal Screening Score Combined with Stool DNA Test Improves the Detection Rate for Colorectal Advanced Neoplasms.
Xu Junfeng et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2022 -
CtDNA-guided rechallenge with anti-EGFR therapy in RASwt metastatic colorectal cancer: Evidence from clinical practice.
D'Onofrio Raffaella et al. Tumori 2022 3008916221122554
Hereditary Cancer
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Prevalence of thyroid nodules and thyroid cancer in individuals with a first-degree family history of non-medullary thyroid cancer: a cross-sectional study based on sonographic screening.
Grani Giorgio et al. Thyroid : official journal of the American Thyroid Association 2022 -
Addition of Germline Testing to Tumor-Only Sequencing Improves Detection of Pathogenic Germline Variants in Men With Advanced Prostate Cancer.
Berchuck Jacob E et al. JCO precision oncology 2022 6e2200329 -
Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions.
Davidson Aimee L et al. Human mutation 2022 -
Other Primary Malignancies in Patients with Breast Cancer Who Undergo Germline Panel Testing.
Murphy Brittany L et al. Annals of surgical oncology 2022 -
An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.
Schwartz Alison et al. Frontiers in oncology 2022 12942741 -
Eligibility, uptake and response to germline genetic testing in women with DCIS.
Turza Lauren et al. Frontiers in oncology 2022 12918757 -
Systems approach to enhance Lynch syndrome diagnosis through tumour testing.
Singh Vinit et al. Journal of medical genetics 2022 -
Familial component of early-onset colorectal cancer: opportunity for prevention.
Daca-Alvarez Maria et al. The British journal of surgery 2022 -
Family history of malignant tumor is a predictor of gastric cancer prognosis: Incorporation into a nomogram.
Wang Fanke et al. Medicine 2022 101(35) e30141 -
Gene-based Confirmatory Germline Testing Following Tumor-only Sequencing of Prostate Cancer.
Truong Hong et al. European urology 2022 -
Clinical implementation of genetic testing in adults for hereditary hematologic malignancy syndromes.
Ansar Safa et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Chronic Disease
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Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia, Bipolar Disorder, and Depression Among Adults in the US Veterans Affairs Health Care System.
Bigdeli Tim B et al. JAMA psychiatry 2022 -
Which patients with CKD will benefit from genomic sequencing? Synthesizing progress to illuminate the future.
Mallett Andrew J et al. Current opinion in nephrology and hypertension 2022
Ethics/Policy/Law
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"If relatives inherited the gene, they should inherit the data." Bringing the family into the room where bioethics happens.
Gordon Deborah R et al. New genetics and society 2022 41(1) 23-46
Practice
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Genomic medicine in Africa: a need for molecular genetics and pharmacogenomics experts.
Oluwole Oluwafemi G et al. Current medical research and opinion 2022 1-21 -
Mind the Gap: The Complete Human Genome Unlocks Benefits for Clinical Genomics.
Kim Daniel Seung et al. Clinical chemistry 2022
Heart, Lung, Blood and Sleep Diseases
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Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features.
Wang Yu et al. JAMA cardiology 2022 -
Genetic Testing in High-risk Spontaneous Coronary Artery Dissection-Searching for Clinical Utility Among Background Genetic Noise.
Giudicessi John R et al. JAMA cardiology 2022 -
HLA Class II regulation of immune response in sickle cell disease patients: Susceptibility to red blood cell alloimmunization (systematic review and meta-analysis).
Wong Karmen et al. Vox sanguinis 2022 -
Symptoms and ECG changes precede sudden cardiac death in hypertrophic cardiomyopathy-A nationwide study among the young in Sweden.
Börjesson Erik et al. PloS one 2022 17(9) e0273567 -
Umbilical cord blood as a hematopoietic stem cell source in transplantation for pediatric sickle cell disease: Current challenges and strategies.
Malhotra Megha et al. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2022 103554 -
Evaluating Associations between Average Pain Intensity and Genetic Variation in People with Sickle Cell Disease: An Exploratory Study.
Knisely Mitchell R et al. Pain management nursing : official journal of the American Society of Pain Management Nurses 2022
Newborn Screening
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Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics.
Minear Mollie A et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022 -
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post-analytical tools.
Hall Patricia Liane et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022 -
Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing.
Timmins George Thomas et al. Public health genomics 2022 1-8 -
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
Martín-Rivada Álvaro et al. Journal of pediatric endocrinology & metabolism : JPEM 2022
Pharmacogenomics
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Pharmacogenomic Testing and Depressive Symptom Remission: A Systematic Review and Meta-Analysis of Prospective, Controlled Clinical Trials.
Brown Lisa C et al. Clinical pharmacology and therapeutics 2022
Reproductive Health
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Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes.
Mossfield Tamara et al. Frontiers in genetics 2022 13975987