Publications by authors named "Amanda Lazzeri"
Purpose: Three genetic conditions-hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia-have tier 1 evidence for interventions that reduce morbidity and mortality, prompting proposals to screen unselected populations for these conditions. We examined the impact of genomic screening on risk management and early detection in an unselected population.
Methods: Observational study of electronic health records (EHR) among individuals in whom a pathogenic/likely pathogenic variant in a tier 1 gene was discovered through Geisinger's MyCode project.
A challenge in returning genomic test results to research participants is how best to communicate complex and clinically nuanced findings to participants in a manner that is scalable to the large numbers of participants enrolled. The purpose of this study was to examine the features of genetic results letters produced at each Electronic Medical Records and Genomics (eMERGE3) Network site to assess their readability and content. Letters were collected from each site, and a qualitative analysis of letter content and a quantitative analysis of readability statistics were performed.
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- Population genomic screening can identify at-risk individuals who might go unnoticed in traditional clinical settings, raising concerns about unnecessary healthcare services and costs.
- This study aimed to analyze the changes in healthcare usage and costs before and after disclosing a pathogenic variant to patients as well as the adoption of recommended risk management practices.
- Data from 59 women enrolled in a genomic screening program showed no significant changes in healthcare costs or utilization, but a notable percentage sought genetic counseling and screenings like mammograms and MRIs post-disclosure.
Article Synopsis
- The study focuses on identifying disease-causing variants in the BRCA1 and BRCA2 genes within a large research group to aid in cancer prevention and diagnosis.
- Conducted on over 50,000 adult volunteers, it utilized exome sequencing to assess the prevalence of these variants and their impact on personal and family cancer history.
- Results showed that only 0.5% were BRCA1/2 carriers, with a significant portion of these individuals having no previous clinical testing for their variants.
Background: The MyCode Community Health Initiative (MyCode) is returning actionable results from whole exome sequencing. Familial hypercholesterolemia (FH) is an inherited condition characterized by premature cardiovascular disease.
Methods: We used multiple methods to assess care in 28 MyCode participants who received FH results.
There is growing interest in communicating clinically relevant DNA sequence findings to research participants who join projects with a primary research goal other than the clinical return of such results. Since Geisinger's MyCode Community Health Initiative (MyCode) was launched in 2007, more than 200,000 participants have been broadly consented for discovery research. In 2013 the MyCode consent was amended to include a secondary analysis of research genomic sequences that allows for delivery of clinical results.
View Article and Find Full Text PDFPurposeThe clinical utility of screening unselected individuals for pathogenic BRCA1/2 variants has not been established. Data on cancer risk management behaviors and diagnoses of BRCA1/2-associated cancers can help inform assessments of clinical utility.MethodsWhole-exome sequences of participants in the MyCode Community Health Initiative were reviewed for pathogenic/likely pathogenic BRCA1/2 variants.
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