Search Results - "Goddard, Katrina A.B"
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Awareness and Utilization of BRCA1/2 Testing Among U.S. Primary Care Physicians
Published in American journal of preventive medicine (2011)“…Background Testing for mutations in the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 ( BRCA ) has been commercially available since 1996…”
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Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system
Published in Hereditary cancer in clinical practice (18-04-2022)“…Lynch syndrome (LS) is associated with an increased risk of colorectal (CRC) and endometrial (EC) cancers. Universal tumor screening (UTS) of all individuals…”
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It's complicated: criteria for policy decisions for the clinical integration of genome‐scale sequencing for reproductive decision making
Published in Molecular genetics & genomic medicine (01-07-2015)“…The integration of genome scale sequencing into clinical practice for reproductive decision making raises similar policy issues for carrier testing for cystic…”
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The evolving landscape of expanded carrier screening: challenges and opportunities
Published in Genetics in medicine (01-04-2019)“…Carrier screening allows individuals to learn their chance of passing on an autosomal or X-linked condition to their offspring. Initially introduced as…”
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Establishing the Medical Actionability of Genomic Variants
Published in Annual review of genomics and human genetics (31-08-2022)“…Actionability is an important concept in medicine that does not have a well-accepted standard definition, nor is there a general consensus on how to establish…”
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Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory
Published in American journal of human genetics (07-06-2018)“…Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a…”
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Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer
Published in Genetics in medicine (01-12-2013)“…The aim of this study was to examine Lynch syndrome screening of patients with metastatic colorectal cancer in integrated health-care-delivery organizations…”
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Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing
Published in Contemporary clinical trials (01-02-2017)“…Abstract Population-based carrier screening is limited to well-studied or high-impact genetic conditions for which the benefits may outweigh the associated…”
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Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies
Published in Genetics in medicine (01-09-2013)“…The aim of this study was to develop, operationalize, and pilot test a transparent, reproducible, and evidence-informed method to determine when to report…”
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Participant Reactions to a Literacy-Focused, Web-Based Informed Consent Approach for a Genomic Implementation Study
Published in AJOB empirical bioethics (02-01-2021)“…Background: Clinical genomic implementation studies pose challenges for informed consent. Consent forms often include complex language and concepts, which can…”
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The NextGen Study: patient motivation for participation in genome sequencing for carrier status
Published in Molecular genetics & genomic medicine (01-09-2017)“…Background While translational genomic sequencing research is increasing, few studies have been limited to healthy individuals; most have focused on patients…”
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Building the evidence base for decision making in cancer genomic medicine using comparative effectiveness research
Published in Genetics in medicine (01-07-2012)“…The clinical utility is uncertain for many cancer genomic applications. Comparative effectiveness research (CER) can provide evidence to clarify this…”
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A Familial Alzheimer's Disease Locus on Chromosome I
Published in Science (American Association for the Advancement of Science) (18-08-1995)“…The Volga German kindreds are a group of seven related families with autosomal dominant early-onset Alzheimer's disease (AD). Linkage to known AD-related loci…”
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Stakeholder assessment of the evidence for cancer genomic tests: insights from three case studies
Published in Genetics in medicine (01-07-2012)“…Insufficient evidence on the net benefits and harms of genomic tests in real-world settings is a translational barrier for genomic medicine. Understanding…”
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Candidate-gene association study of mothers with pre-eclampsia, and their infants, analyzing 775 SNPs in 190 genes
Published in Human heredity (01-01-2007)“…Pre-eclampsia (PE) affects 5-7% of pregnancies in the US, and is a leading cause of maternal death and perinatal morbidity and mortality worldwide. To identify…”
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Identification of Evidence-Based Biospecimen Quality-Control Tools
Published in The Journal of molecular diagnostics : JMD (2013)“…Control of biospecimen quality that is linked to processing is one of the goals of biospecimen science. Consensus is lacking, however, regarding optimal sample…”
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Lessons learned about harmonizing survey measures for the CSER consortium
Published in Journal of clinical and translational science (24-04-2020)“…Implementation of genome-scale sequencing in clinical care has significant challenges: the technology is highly dimensional with many kinds of potential…”
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Universal Screen for Lynch Syndrome in an Integrated Health Care System: Assessment of Patient Perspectives and Sharing Results With At-Risk Relatives
Published in Journal of Patient-Centered Research and Reviews (15-08-2016)“…Background/Aims: Lynch syndrome (LS) is the most common cause of hereditary colorectal cancer (CRC). Evidence-based recommendations promote universal tumor…”
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Association of kallikrein gene polymorphisms with intracranial aneurysms
Published in Stroke (1970) (01-10-2007)“…Genomewide DNA linkage analysis identified a susceptibility locus for intracranial aneurysm (IA) on chromosome 19q13 in the Finnish population, a region…”
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Advancing Implementation Science in Cancer Genomics: Progressing from Discovery to Population Health Benefit
Published in Public health genomics (07-10-2024)Get full text
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