Author
Sarah S. Kalia
Other affiliations:Â Brigham and Women's Hospital, Icahn School of Medicine at Mount Sinai
Bio: Sarah S. Kalia is an academic researcher from Harvard University. The author has contributed to research in topics: Personal genomics & Randomized controlled trial. The author has an hindex of 15, co-authored 18 publications receiving 3601 citations. Previous affiliations of Sarah S. Kalia include Brigham and Women's Hospital & Icahn School of Medicine at Mount Sinai.
Papers
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Brigham and Women's Hospital1, Partners HealthCare2, University of North Carolina at Chapel Hill3, University of California, Los Angeles4, University of Alabama at Birmingham5, Geisinger Health System6, Baylor College of Medicine7, University of California, San Francisco8, Stanford University9, American College of Medical Genetics10, National Institutes of Health11
TL;DR: It is recommended that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here and encourage the creation of an ongoing process for updating these recommendations at least annually as further data are collected.
2,215Â citations
Brigham and Women's Hospital1, GeneDx2, Columbia University3, Baylor College of Medicine4, University of North Carolina at Chapel Hill5, Nationwide Children's Hospital6, Stanford University7, University of Alabama at Birmingham8, University of Arkansas for Medical Sciences9, Oregon Health & Science University10, Virginia Commonwealth University11, American College of Medical Genetics12, Geisinger Health System13, Boston Children's Hospital14
TL;DR: The new process for accepting and evaluating nominations for updates to the secondary findings list is described, and the updated secondary findings minimum list includes 59 medically actionable genes recommended for return in clinical genomic sequencing.
1,357Â citations
Brigham and Women's Hospital1, University of North Carolina at Chapel Hill2, Boston Children's Hospital3, National Institutes of Health4, Medical College of Wisconsin5, University of California, Los Angeles6, Emory University7, University of Alabama at Birmingham8, Children's Hospital of Philadelphia9, Baylor College of Medicine10, University of California, San Francisco11
TL;DR: Specialists were highly concordant for the return of findings for 64 conditions or genes if discovered incidentally during whole-exome sequencing or whole-genome sequencing.
161Â citations
TL;DR: Most customers accurately interpreted the health implications of PGT results; however, comprehension varied by demographic characteristics, numeracy and genetic knowledge, and types and format of the genetic information presented.
Abstract: Aim: To assess customer comprehension of health-related personal genomic testing (PGT) results. Methods: We presented sample
73Â citations
TL;DR: To determine the effect of disclosure of rheumatoid arthritis (RA) risk personalized with genetics, biomarkers, and lifestyle factors on health behavior intentions, a large number of patients were surveyed and it was found that disclosure increased the likelihood that they would follow a healthy lifestyle.
Abstract: Objective
To determine the effect of disclosure of rheumatoid arthritis (RA) risk personalized with genetics, biomarkers, and lifestyle factors on health behavior intentions.
Methods
We performed a randomized controlled trial among first-degree relatives without RA. Subjects assigned to the Personalized Risk Estimator for RA (PRE-RA) group received the web-based PRE-RA tool for RA risk factor education and disclosure of personalized RA risk estimates including genotype/autoantibody results and behaviors (n=158). Subjects assigned to the comparison arm received standard RA education (n=80). The primary outcome was readiness for change based on the transtheoretical model, using validated contemplation ladder scales. Increased motivation to improve RA risk-related behaviors (smoking, diet, exercise, or dental hygiene) was defined as an increase in any ladder score compared to baseline assessed immediately, 6 weeks, and 6 months post-intervention. Subjects reported behavior change at each visit. We performed intention-to-treat analyses using generalized estimating equations for the binary outcome.
Results
Subjects randomized to PRE-RA were more likely to increase ladder scores over post-intervention assessments (RR 1.23, 95%CI 1.01-1.51) than those randomized to non-personalized education. At 6 months, 63.9% of PRE-RA subjects and 50.0% of comparison subjects increased motivation to improve behaviors (age-adjusted difference 15.8%, 95%CI 2.8-28.8%). Compared to non-personalized education, more PRE-RA subjects increased fish intake (45.0% vs. 22.1%; p=0.005), brushed more frequently (40.7% vs. 22.9%; p=0.01), flossed more frequently (55.7% vs. 34.8%; p=0.004), and quit smoking (62.5% vs. 0.0% among 11 smokers; p=0.18).
Conclusion
Disclosure of RA risk personalized with genotype/biomarker results and behaviors increased motivation to improve RA risk-related behaviors. Personalized medicine approaches may motivate health behavior improvements for those at risk for RA and provide rationale for larger studies evaluating effects of behavior changes on clinical outcomes such as RA-related autoantibody production or RA development.
This article is protected by copyright. All rights reserved.
55Â citations
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TL;DR: To facilitate evaluation of the medical importance of each variant, ClinVar aggregates submissions with the same variation/phenotype combination, adds value from other NCBI databases, assigns a distinct accession of the format RCV000000000.0 and reports if there are conflicting clinical interpretations.
Abstract: ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) provides a freely available archive of reports of relationships among medically important variants and phenotypes. ClinVar accessions submissions reporting human variation, interpretations of the relationship of that variation to human health and the evidence supporting each interpretation. The database is tightly coupled with dbSNP and dbVar, which maintain information about the location of variation on human assemblies. ClinVar is also based on the phenotypic descriptions maintained in MedGen (http://www.ncbi.nlm.nih.gov/medgen). Each ClinVar record represents the submitter, the variation and the phenotype, i.e. the unit that is assigned an accession of the format SCV000000000.0. The submitter can update the submission at any time, in which case a new version is assigned. To facilitate evaluation of the medical importance of each variant, ClinVar aggregates submissions with the same variation/phenotype combination, adds value from other NCBI databases, assigns a distinct accession of the format RCV000000000.0 and reports if there are conflicting clinical interpretations. Data in ClinVar are available in multiple formats, including html, download as XML, VCF or tab-delimited subsets. Data from ClinVar are provided as annotation tracks on genomic RefSeqs and are used in tools such as Variation Reporter (http://www.ncbi.nlm.nih.gov/variation/tools/reporter), which reports what is known about variation based on user-supplied locations.
2,234Â citations
Brigham and Women's Hospital1, Partners HealthCare2, University of North Carolina at Chapel Hill3, University of California, Los Angeles4, University of Alabama at Birmingham5, Geisinger Health System6, Baylor College of Medicine7, University of California, San Francisco8, Stanford University9, American College of Medical Genetics10, National Institutes of Health11
TL;DR: It is recommended that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here and encourage the creation of an ongoing process for updating these recommendations at least annually as further data are collected.
2,215Â citations
TL;DR: W whole-exome sequencing identified the underlying genetic defect in 25% of consecutive patients referred for evaluation of a possible genetic condition.
Abstract: Background Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders. Methods We developed technical, bioinformatic, interpretive, and validation pipelines for whole-exome sequencing in a certified clinical laboratory to identify sequence variants underlying disease phenotypes in patients. Results We present data on the first 250 probands for whom referring physicians ordered whole-exome sequencing. Patients presented with a range of phenotypes suggesting potential genetic causes. Approximately 80% were children with neurologic phenotypes. Insurance coverage was similar to that for established genetic tests. We identified 86 mutated alleles that were highly likely to be causative in 62 of the 250 patients, achieving a 25% molecular diagnostic rate (95% confidence interval, 20 to 31). Among the 62 patients, 33 had autosomal dominant disease, 16 had autosomal recessive disease, and 9 had X-linked disease. A total of 4 probands re...
1,727Â citations
National Institutes of Health1, University of Toronto2, Martin Luther University of Halle-Wittenberg3, University of Pisa4, Medical College of Wisconsin5, Memorial Sloan Kettering Cancer Center6, Washington University in St. Louis7, University of Siena8, Heidelberg University9, University of Sydney10, University of Kentucky11, University of Naples Federico II12, Institut Gustave Roussy13, Ohio State University14
TL;DR: The revised guidelines are focused primarily on the diagnosis and treatment of patients with sporadic medullary thyroid carcinoma (MTC) and hereditary MTC and developed 67 evidence-based recommendations to assist clinicians in the care of Patients with MTC.
Abstract: Introduction: The American Thyroid Association appointed a Task Force of experts to revise the original Medullary Thyroid Carcinoma: Management Guidelines of the American Thyroid Association. Methods: The Task Force identified relevant articles using a systematic PubMed search, supplemented with additional published materials, and then created evidence-based recommendations, which were set in categories using criteria adapted from the United States Preventive Services Task Force Agency for Healthcare Research and Quality. The original guidelines provided abundant source material and an excellent organizational structure that served as the basis for the current revised document. Results: The revised guidelines are focused primarily on the diagnosis and treatment of patients with sporadic medullary thyroid carcinoma (MTC) and hereditary MTC. Conclusions: The Task Force developed 67 evidence-based recommendations to assist clinicians in the care of patients with MTC. The Task Force considers the recommendati...
1,504Â citations
Brigham and Women's Hospital1, GeneDx2, Columbia University3, Baylor College of Medicine4, University of North Carolina at Chapel Hill5, Nationwide Children's Hospital6, Stanford University7, University of Alabama at Birmingham8, University of Arkansas for Medical Sciences9, Oregon Health & Science University10, Virginia Commonwealth University11, American College of Medical Genetics12, Geisinger Health System13, Boston Children's Hospital14
TL;DR: The new process for accepting and evaluating nominations for updates to the secondary findings list is described, and the updated secondary findings minimum list includes 59 medically actionable genes recommended for return in clinical genomic sequencing.
1,357Â citations