Seema Panchal
YOU?
Author Swipe
View article: Treatment of infertility and risk of breast cancer among women with a BRCA pathogenic variant: a matched case-control study
Treatment of infertility and risk of breast cancer among women with a BRCA pathogenic variant: a matched case-control study Open
Background The global trend toward delayed childbearing has led to an increased use of fertility treatment, including in vitro fertilization (IVF) and hormonal medications. Concerns regarding the potential impact of these interventions on …
View article: Opportunistic screening for broad range of medically relevant secondary findings: Laboratory benefits and burdens
Opportunistic screening for broad range of medically relevant secondary findings: Laboratory benefits and burdens Open
While the yield of reportable SFs was high, this was accompanied by many non-reportable VUS and increased efforts for exome analysis.
View article: P298: Decoding ambiguity: Evaluating the psychological harms and utility of returning cancer variants of uncertain significance
P298: Decoding ambiguity: Evaluating the psychological harms and utility of returning cancer variants of uncertain significance Open
View article: P686: Opportunistic screening for broad range of clinically relevant secondary findings: Outcomes of exome analysis in the Incidental Genomics RCT
P686: Opportunistic screening for broad range of clinically relevant secondary findings: Outcomes of exome analysis in the Incidental Genomics RCT Open
View article: P609: Mainstreaming genetics: Evaluation of a digital application to scale and spread oncologist-initiated genetic testing
P609: Mainstreaming genetics: Evaluation of a digital application to scale and spread oncologist-initiated genetic testing Open
View article: MRI Surveillance and Breast Cancer Mortality in Women With <i>BRCA1</i> and <i>BRCA2</i> Sequence Variations
MRI Surveillance and Breast Cancer Mortality in Women With <i>BRCA1</i> and <i>BRCA2</i> Sequence Variations Open
Importance Magnetic resonance imaging (MRI) surveillance is offered to women with a pathogenic variant in the BRCA1 or BRCA2 gene who face a high lifetime risk of breast cancer. Surveillance with MRI is effective in downstaging breast canc…
View article: Bilateral Oophorectomy and All-Cause Mortality in Women With <i>BRCA1</i> and <i>BRCA2</i> Sequence Variations
Bilateral Oophorectomy and All-Cause Mortality in Women With <i>BRCA1</i> and <i>BRCA2</i> Sequence Variations Open
Importance Preventive bilateral salpingo-oophorectomy is offered to women at high risk of ovarian cancer who carry a pathogenic variant in BRCA1 or BRCA2 ; however, the association of oophorectomy with all-cause mortality has not been clea…
View article: Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing
Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing Open
The Genetics Adviser is a comprehensive, interactive, patient-centered application found to have high acceptability and usability for pre- and post-test genomic testing, counseling, and return of results adaptable for multiple testing plat…
View article: P523: Returning all clinically relevant findings from genomic sequencing: Preliminary results from the incidental genomics RCT
P523: Returning all clinically relevant findings from genomic sequencing: Preliminary results from the incidental genomics RCT Open
While guidelines prioritize the return of medically actionable secondary findings (SFs) from genomic sequencing (GS), practice is shifting toward returning a broader range of results to patients and research participants, including variant…
View article: P538: Curious but cautious: Patients’ preferences for all types of clinically actionable genomic incidental results
P538: Curious but cautious: Patients’ preferences for all types of clinically actionable genomic incidental results Open
Genomic sequencing (GS) can generate a large volume of incidental results (IR), findings that are unrelated to the primary indication, but which can have varying levels of medical actionability. Guidelines (eg, ACMG) recommend that patient…
View article: P555: Clinical utility returning of all types of medically relevant genomic sequencing findings: An observational study
P555: Clinical utility returning of all types of medically relevant genomic sequencing findings: An observational study Open
Guidelines prioritize medically actionable secondary findings (SFs), but a broader spectrum of clinically relevant results could be analyzed and returned. However, evidence on the clinical outcomes of returning results beyond medically act…
View article: Risk-reducing mastectomy and breast cancer mortality in women with a BRCA1 or BRCA2 pathogenic variant: an international analysis
Risk-reducing mastectomy and breast cancer mortality in women with a BRCA1 or BRCA2 pathogenic variant: an international analysis Open
View article: “I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening Open
View article: Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy
Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy Open
View article: “I don’t need any more unknowns hanging over my head”: Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing
“I don’t need any more unknowns hanging over my head”: Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing Open
View article: Great expectations: patients’ preferences for clinically significant results from genomic sequencing
Great expectations: patients’ preferences for clinically significant results from genomic sequencing Open
View article: P409: Clinical utility of genomic sequencing for hereditary cancer syndromes: An observational chart review
P409: Clinical utility of genomic sequencing for hereditary cancer syndromes: An observational chart review Open
View article: A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings
A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings Open
Genomic sequencing (GS) can reveal secondary findings (SFs), findings unrelated to the reason for testing, that can be overwhelming to both patients and providers. An effective approach for communicating all clinically significant primary …
View article: Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery
Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery Open
Introduction The high demand for genetic tests and limited supply of genetics professionals has created a need for alternative service delivery models. Digital tools are increasingly being used to support multiple points in the genetic tes…
View article: eP392: A comprehensive genomic test reporting structure for communicating cancer and incidental findings
eP392: A comprehensive genomic test reporting structure for communicating cancer and incidental findings Open
View article: “Game Changer”: Health Professionals’ Views on the Clinical Utility of Circulating Tumor DNA Testing in Hereditary Cancer Syndrome Management
“Game Changer”: Health Professionals’ Views on the Clinical Utility of Circulating Tumor DNA Testing in Hereditary Cancer Syndrome Management Open
Background We explored health professionals’ views on the utility of circulating tumor DNA (ctDNA) testing in hereditary cancer syndrome (HCS) management. Materials and Methods A qualitative interpretive description study was conducted, us…
View article: Incidental findings from cancer next generation sequencing panels
Incidental findings from cancer next generation sequencing panels Open
View article: An evaluation of memory and attention in <i>BRCA</i> mutation carriers using an online cognitive assessment tool
An evaluation of memory and attention in <i>BRCA</i> mutation carriers using an online cognitive assessment tool Open
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 BRCA1 or BRCA2 mutation. Methods BRCA mutation carriers enrolled in a longitudin…
View article: The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care
The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care Open
View article: Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study Open
Background Exome and genome sequencing have been demonstrated to increase diagnostic yield in paediatric populations, improving treatment options and providing risk information for relatives. There are limited studies examining the clinica…
View article: Quality of life drives patients’ preferences for secondary findings from genomic sequencing
Quality of life drives patients’ preferences for secondary findings from genomic sequencing Open
View article: Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial
Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial Open
View article: Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial
Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial Open
Introduction Genomic sequencing has rapidly transitioned into clinical practice, improving diagnosis and treatment options for patients with hereditary disorders. However, large-scale implementation of genomic sequencing faces challenges, …
View article: Predictors of mammographic density among women with a strong family history of breast cancer
Predictors of mammographic density among women with a strong family history of breast cancer Open
Background Mammographic density is one of the strongest risk factors for breast cancer. In the general population, mammographic density can be modified by various exposures; whether this is true for women a strong family history is not kno…
View article: Development of patient “profiles” to tailor counseling for incidental genomic sequencing results
Development of patient “profiles” to tailor counseling for incidental genomic sequencing results Open