Search Results - "PANCHAL, Seema"
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Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial
Published in Genetics in medicine (01-04-2020)“…To evaluate the effectiveness of the Genomics ADvISER (www.genomicsadviser.com) decision aid (DA) for selection of secondary findings (SF), compared with…”
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The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care
Published in Genetics in medicine (01-06-2021)“…Alternative models of genetic counseling are needed to meet the rising demand for genomic sequencing. Digital tools have been proposed as a method to augment…”
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Selecting a BRCA risk assessment model for use in a familial cancer clinic
Published in BMC medical genetics (22-12-2008)“…Risk models are used to calculate the likelihood of carrying a BRCA1 or BRCA2 mutation. We evaluated the performances of currently-used risk models among…”
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Quality of life drives patients' preferences for secondary findings from genomic sequencing
Published in European journal of human genetics : EJHG (01-09-2020)“…There is growing impetus to include measures of personal utility, the nonmedical value of information, in addition to clinical utility in health technology…”
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Incidental findings from cancer next generation sequencing panels
Published in Npj genomic medicine (19-07-2021)“…Next-generation sequencing (NGS) technologies have facilitated multi-gene panel (MGP) testing to detect germline DNA variants in hereditary cancer patients…”
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Development of patient "profiles" to tailor counseling for incidental genomic sequencing results
Published in European journal of human genetics : EJHG (01-07-2019)“…Guidelines recommend that providers engage patients in shared decision-making about receiving incidental results (IR) prior to genomic sequencing (GS), but…”
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Predictors of mammographic density among women with a strong family history of breast cancer
Published in BMC cancer (26-06-2019)“…Mammographic density is one of the strongest risk factors for breast cancer. In the general population, mammographic density can be modified by various…”
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Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery
Published in BMJ open (29-04-2022)“…IntroductionThe high demand for genetic tests and limited supply of genetics professionals has created a need for alternative service delivery models. Digital…”
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P409: Clinical utility of genomic sequencing for hereditary cancer syndromes: An observational chart review
Published in Genetics in Medicine Open (2023)Get full text
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A Review of Genetic Counseling for Charcot Marie Tooth Disease (CMT)
Published in Journal of genetic counseling (01-08-2013)“…Charcot Marie Tooth disease (CMT) encompasses the inherited peripheral neuropathies. While four genes have been found to cause over 90 % of genetically…”
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Changing My Perspective: What My Husband’s Cancer Taught Me About Being a Genetic Counselor
Published in Journal of genetic counseling (01-04-2012)“…The author describes her family experience with cancer. Part of a special journal issue focused on 'defining moments' in genetic counselor professional…”
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An update on genetic risk assessment and prevention: the role of genetic testing panels in breast cancer
Published in Expert review of anticancer therapy (02-09-2019)“…Introduction: In the past 5 years, multi-gene panels have replaced the practice of BRCA1 and BRCA2 genetic testing in cases of suspected inherited breast…”
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Recontact to return new or updated PALB2 genetic results in the clinical laboratory setting
Published in Journal of medical genetics (01-05-2024)“…The purpose of this study was to recontact individuals with clinically actionable test results identified through a retrospective research study and to provide…”
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Risk-reducing mastectomy and breast cancer mortality in women with a BRCA1 or BRCA2 pathogenic variant: an international analysis
Published in British journal of cancer (10-02-2024)“…Background Risk-reducing mastectomy (RRM) is offered to women with a BRCA1 or BRCA2 pathogenic variant, however, there are limited data on the impact on breast…”
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Tamoxifen and the risk of breast cancer in women with a BRCA1 or BRCA2 mutation
Published in Breast cancer research and treatment (01-09-2023)“…Purpose Chemoprevention with a selective estrogen receptor modulator (tamoxifen or raloxifene) is a non-surgical option offered to high-risk women to reduce…”
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Opportunistic genomic screening has clinical utility: An interventional cohort study
Published in Genetics in medicine (08-11-2024)“…Practice is shifting toward genome-first approaches, such as opportunistic screening for secondary findings (SFs). Analysis of SFs could be extended beyond…”
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An evaluation of memory and attention in BRCA mutation carriers using an online cognitive assessment tool
Published in Cancer (01-09-2021)“…Background The objective of this study was to evaluate the impact of various surgical, hormonal, and lifestyle factors on memory and attention in women with a…”
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