Improving outcomes for Colorado's IRT-IRT-DNA cystic fibrosis newborn screening algorithm by implementing floating cutoffs.
Martiniano Stacey L et al. Molecular genetics and metabolism 2021
The Colorado Newborn Screening Program (CO-NBS) screens for cystic fibrosis (CF) by measuring immunoreactive trypsinogen (IRT) from two screens coupled with DNA analysis (IRT/IRT/DNA). The Colorado CF Care Center identified 8 missed CF cases among 358,187 infants screened by the CO-NSP since 2016. Retrospective analysis of CO-NSP IRT data shows that a 96th percentile floating IRT cutoff with a 50 ng/mL fixed cutoff on the first screen, and second screen 50 ng/mL fixed cutoff would have identified 7 of the 8 missed cases.
Familial Risks and Proportions Describing Population Landscape of Familial Cancer.
Hemminki Kari et al. Cancers 2021 13(17)
We employed standardized incidence ratios (SIRs) to estimate familial risks for concordant cancer among first-degree relatives using the Swedish Cancer Registry from years 1958 through 2016.Cancer risks in a 20-84 year old population conferred by affected parents or siblings were about two-fold compared to the risk for individuals with unaffected relatives. For small intestinal, testicular, thyroid and bone cancers and Hodgkin disease, risks were higher, five-to-eight-fold. Novel familial associations included adult bone, lip, pharyngeal, and connective tissue cancers
Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study.
Porras Antonio R et al. The Lancet. Digital health 2021
Delays in the diagnosis of genetic syndromes are common, particularly in low and middle-income countries with limited access to genetic screening services. We, therefore, aimed to develop and evaluate a machine learning-based screening technology using facial photographs to evaluate a child's risk of presenting with a genetic syndrome for use at the point of care.In this retrospective study, we developed a facial deep phenotyping technology based on deep neural networks and facial statistical shape models to screen children for genetic syndromes.
News and Publications
Birth Defects and Child Health
Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review.
Falsaperla Raffaele et al. Journal of pediatric genetics 2021 10(3) 173-193
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.
Mergnac Jean-Philippe et al. Human genetics 2021
Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders.
Ouyang Xuejun et al. Frontiers in genetics 2021 12725259
Evaluation and Management of Early Onset Genetic Obesity in Childhood.
Malhotra Sonali et al. Journal of pediatric genetics 2021 10(3) 194-204
The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review.
Eichinger Johanna et al. BMC pediatrics 2021 21(1) 387
[Treating inherited bone marrow failure syndromes and primary immunodeficiency diseases].
Ishimura Masataka et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2021 62(8) 1327-1333
Molecular profiling of advanced solid tumours. The impact of experimental molecular-matched therapies on cancer patient outcomes in early-phase trials: the MAST study.
Gambardella Valentina et al. British journal of cancer 2021
The Expression Profiles and Deregulation of UDP-Glycosyltransferase (UGT) Genes in Human Cancers and Their Association with Clinical Outcomes.
Hu Dong Gui et al. Cancers 2021 13(17)
Screening and discrimination of optimal prognostic genes for pancreatic cancer based on a prognostic prediction model.
Chen Zhiqin et al. G3 (Bethesda, Md.) 2021
Genomic profiling using the UltraSEEK panel identifies discordancy between paired primary and breast cancer brain metastases and an association with brain metastasis-free survival.
Giannoudis Athina et al. Breast cancer research and treatment 2021
Cost-effectiveness of treatment optimisation with biomarkers for immunotherapy in solid tumours: a systematic review protocol.
Mucherino Sara et al. BMJ open 2021 11(9) e048141
Ethical, Legal and Social Issues
License CRISPR patents for free to share gene editing globally.
et al. Nature 2021 597(7875) 152
Ethical dilemma: ELX/TEZ/IVA or Lung Transplantation in Cystic Fibrosis and End Stage Lung Disease?
Breuer Oded et al. Chest 2021
Germline genome modification through novel political, ethical, and social lenses.
Xafis Vicki et al. PLoS genetics 2021 17(9) e1009741
Public knowledge and opinion of epigenetics and epigenetic concepts.
Lynch Fiona et al. Journal of developmental origins of health and disease 2021 1-10
Using Online Mendelian Inheritance in Man in low- and middle-income countries.
de Macena Sobreira Nara Lygia et al. American journal of medical genetics. Part A 2021
Risks of Coaggregation of Major Psychiatric Disorders Among First-Degree Relatives of Patients With Bipolar I and Bipolar II Disorder: Evidence From a Nationwide Population-Based Study.
Cheng Chih-Ming et al. The Journal of clinical psychiatry 2021 82(5)
Perceptions, Beliefs, and Experiences of Asians and Micronesian Islanders on Family Health History Genetic Cancer Screening Community Outreach.
Nguyen-Truong Connie Kim Yen et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2021
Heart, Lung, Blood and Sleep
Differential Genomic Profile in TERT, DSP, and FAM13A Between COPD Patients With Emphysema, IPF, and CPFE Syndrome.
Guzmán-Vargas Javier et al. Frontiers in medicine 2021 8725144
(Lack of) knowledge of mothers about sickle cell trait and disease: a qualitative study.
Rocha Rafael et al. Revista brasileira de enfermagem 2021 75(1) e20201217
Cost-effectiveness of cascade genetic testing for familial hypercholesterolemia in the United States: A simulation analysis.
Jackson Candace L et al. American journal of preventive cardiology 2021 8100245
Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy.
Nauffal Victor et al. European heart journal 2021
Perspectives on Identifying and Treating Familial Hypercholesterolemia in Childhood.
et al. Clinical chemistry 2021
Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening?
Brothers Cassidy et al. Public health genomics 2021 1-8
Associations Between CYP17A1 and SERPINA6/A1 Polymorphisms, and Cardiometabolic Risk Factors in Black South Africans.
Dlamini Siphiwe N et al. Frontiers in genetics 2021 12687335
[Current developments in hemostatic treatment for patients with hemophilia].
Nogami Keiji et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2021 62(8) 1213-1221
Sickle cell disease in sub-Saharan Africa: transferable strategies for prevention and care.
Esoh Kevin et al. The Lancet. Haematology 2021
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).
et al. Lancet (London, England) 2021
Implementation of an embedded in-clinic genetic testing station to optimize germline testing for patients with pancreatic adenocarcinoma.
Walker Evan J et al. The oncologist 2021
Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.
Chandrasekaran Dhivya et al. Cancers 2021 13(17)
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Zishan et al. Genome medicine 2021 13(1) 147
An Ovarian Cancer Susceptible Gene Prediction Method Based on Deep Learning Methods.
Ye Lu et al. Frontiers in cell and developmental biology 2021 9730475
Exploring Gene-Specific Guidelines for Risk Management of Gynecological Cancer in Lynch Syndrome.
Petelin Lara et al. JAMA network open 2021 4(9) e2124384
Cost-effectiveness Analysis of Genotype-Specific Surveillance and Preventive Strategies for Gynecologic Cancers Among Women With Lynch Syndrome.
Wright Jason D et al. JAMA network open 2021 4(9) e2123616
Establishing a new screening 17 hydroxyprogesterone cut-off value and evaluation of the reliability of the long intramuscular ACTH stimulation test in the diagnosis of nonclassical congenital adrenal hyperplasia.
Cengiz H et al. European review for medical and pharmacological sciences 2021 25(16) 5235-5240
Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices.
Farrell Philip M et al. Molecular genetics and metabolism 2021
Online Cancer Genomics Databases Provide Teaching Resources For Pharmacy Education.
Pasupuleti Dedeepya et al. American journal of pharmaceutical education 2021 8683
Strategies to improve pharmacogenomic-guided treatment options for patients with β-hemoglobinopathies.
Patrinos George P et al. Expert review of hematology 2021 1-3
Cost Effectiveness of a CYP2C19 Genotype-Guided Strategy in Patients with Acute Myocardial Infarction: Results from the POPular Genetics Trial.
Claassens Daniel M F et al. American journal of cardiovascular drugs : drugs, devices, and other interventions 2021
Quantifying the Impact of Phenoconversion on Medications With Actionable Pharmacogenomic Guideline Recommendations in an Acute Aged Persons Mental Health Setting.
Mostafa Sam et al. Frontiers in psychiatry 2021 12724170
DPYD Genotyping in Patients Who Have Planned Cancer Treatment With Fluoropyrimidines: A Health Technology Assessment.
et al. Ontario health technology assessment series 2021 21(14) 1-186
Multi-gene Pharmacogenomic Testing That Includes Decision-Support Tools to Guide Medication Selection for Major Depression: A Health Technology Assessment.
et al. Ontario health technology assessment series 2021 21(13) 1-214
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
Fung Jasmine L F et al. NPJ genomic medicine 2021 5(1) 37
Metabolomics can provide new insights into perinatal nutrition.
Pintus Roberta et al. Acta paediatrica (Oslo, Norway : 1992) 2021
A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies.
Ridnõi Konstantin et al. Molecular genetics & genomic medicine 2021 e1787
Different Strategies of Preimplantation Genetic Testing for Aneuploidies in Women of Advanced Maternal Age: A Systematic Review and Meta-Analysis.
Shi Wei-Hui et al. Journal of clinical medicine 2021 10(17)
Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting.
Buonomo Barbara et al. BMC medicine 2021 19(1) 205
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston Brendan J et al. Human reproduction update 2021