A5026195846- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Family Support in Illness
- Nutrition, Genetics, and Disease
- Ethics in Clinical Research
- Childhood Cancer Survivors' Quality of Life
- Prenatal Screening and Diagnostics
- Cancer survivorship and care
- Family and Disability Support Research
- Artificial Intelligence in Healthcare and Education
- Head and Neck Cancer Studies
- Palliative Care and End-of-Life Issues
- Genetic Associations and Epidemiology
- Cancer Diagnosis and Treatment
- CRISPR and Genetic Engineering
- Genetic Syndromes and Imprinting
- Viral-associated cancers and disorders
- Identity, Memory, and Therapy
- Pain Management and Opioid Use
- Health, Environment, Cognitive Aging
- Bone Tumor Diagnosis and Treatments
University of Pennsylvania
2017-2025
Penn Center for AIDS Research
2021-2024
Boston Children's Hospital
2016
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
2016
Harvard University
2016
Don Carlo Gnocchi Foundation
2009
Tumori Foundation
1993
<sec> <title>BACKGROUND</title> Germline BRCA1/2 testing has become a standard evidence-based practice, with established risk reduction and cancer screening guidelines for genetic carriers. With FDA approval PARP inhibitors in patients advanced breast, ovarian, pancreatic prostate cancer, there is an additional therapeutic rationale all germline mutations. Yet, many at-risk do not have access to services, leaving carriers unidentified. </sec> <title>OBJECTIVE</title> The eREACH study (A...
The growing use of large language models for health communication raises important questions about patient preferences, trust, and satisfaction with AI-generated content. We conducted a qualitative survey comparing perceptions clinician versus AI answers to Alzheimer's disease genetics. Twenty-six participants scored responses on relevance, trustworthiness, coherence, additionally selected preferred response provided free-text comments. found that generally over human-written ones rated them...
10502 Background: With FDA approval of targeted therapies in patients with germline BRCA1/2 -related advanced cancers there is a need to evaluate efficient and effective delivery models for cancer genetic testing. Methods: eREACH 4 arm non-inferiority study where traditional standard-of-care pre-test (visit 1) post-test 2) counseling delivered by counselor (GC) are replaced patient-centered eHealth (digital) intervention or metastatic cancer. GC visits were offered telehealth the home. Arms...
Purpose Much information on parental perspectives the return of individual research results (IRR) in pediatric genomic is based hypothetical rather than actual IRR. Our aim was to understand how expected utility parents who received IRR their child from a genetic study compared received. Methods We conducted telephone interviews with through participation Manton Center for Orphan Disease Research Gene Discovery Core (GDC) at Boston Children's Hospital (BCH). Results Five themes emerged...
Discussions about disclosing individual genetic research results include calls to consider participants' preferences. In this study, parents of Boston Children's Hospital patients set preferences for disclosure based on disease preventability and severity, could exclude mental health, developmental, childhood degenerative, adult-onset disorders. Participants reviewed hypothetical reports reset preferences, if desired. Among 661 participants who initially wanted all (64%), 1% 336 excluded at...
Abstract Purpose To examine the benefit of telehealth over current delivery options in oncology practices without genetic counselors. Methods Participants meeting cancer testing guidelines were recruited to this multi‐center, randomized trial comparing uptake services with remote (telephone or videoconference) usual care six predominantly community The primary outcome was composite counseling testing. Secondary outcomes compare telephone versus videoconference services. Results 147...
With few exceptions, research on consumer genetic testing for hereditary cancer risk has focused tests with limited predictive value and clinical utility. Our study advances the existing literature by exploring experiences behaviors of individuals who have taken modern susceptibility that, unlike earlier tests, screen medically significant variants. We interviewed 30 had undergone between 2014 2019. explored participants' pre-test sentiments (7 items), receiving results (5 behavioral...
There is an abundance of information in the literature on patient experiences with Internet support groups (ISGs). However, studies exploring these a rare disease population are scarce, even though families often at disadvantage for resources, reliable information, and support. The aim current study was to explore ISGs parents children Cornelia de Lange syndrome (CdLS), genetic diagnosis, order better understand impact emotional their child's medical care. Focus were conducted inform design...
Abstract Background Germline cancer genetic testing has become a standard evidence-based practice, with established risk reduction and screening guidelines for carriers. Access to services is limited in many places, which leaves carriers unidentified at late diagnosis of cancers poor outcomes. This poses problem childhood survivors, as this population an increased subsequent malignant neoplasms (SMN) due therapy or inherited predisposition. The ENG aging A ctivating survivors Ge netic...
<sec> <title>BACKGROUND</title> The use of multigene panels in clinical practice has created an increasing likelihood that cancer genetic testing will leave many patients with uncertainties regarding test interpretation, implications and recommendations, which change over time. We lack effective longitudinal care models to provide updated information results or medical recommendations obtain personal history updates. </sec> <title>OBJECTIVE</title> To bridge this gap medicine, we developed a...
10009 Background: Limited access to genetic services in community practices, leaves many childhood cancer survivors who are carriers unidentified and at risk for subsequent malignant neoplasms (SMNs) due therapy or an inherited predisposition. The ENGaging Activating Genetic (ENGAGE) study evaluated the effectiveness of in-home, collaborative PCP (primary care provider) model remote centralized telehealth increase uptake compared usual care. Methods: 414 were randomized by phone...
Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs’ evolving contributions to the literature, with goal facilitating worldwide professional development for GCs scholarly activities. Methods: Publications were cataloged by members Section Counseling (Section), established at Children’s Hospital Philadelphia and University Pennsylvania 2014, including publication year, journal, impact...
The use of multigene panels has significantly increased the likelihood that genetic testing will leave patients with uncertainties regarding test interpretation, implications, and recommendations, which change over time. Effective longitudinal care models are needed to provide updated information obtain patient family history updates. To bridge this gap, we aimed develop a patient- provider-informed digital health portal (GHP), MyCancerGene, improve understanding responses testing. We used...
Abstract Background With the advent of FDA approved anti‐amyloid therapy and recognition increased side effects in APOE e4 carriers, testing is now recommended for patients considering therapies such as lecanemab. Given therapeutic implications anticipated volume eligible patients, traditional model in‐person, pre‐ post‐test genetic counseling not feasible to incorporate clinical pathways. Alternative delivery models, including digital tools telehealth, will be key providing support. Methods...
6506 Background: Providing remote genetic services by phone or videoconference for patients at community practices without access to providers could increase testing. How uptake of testing compares usual care options has not been reported. Methods: To date, 106 6 were randomized counseling (35 phone; 31 videoconferencing) and 40 (recruitment end 3/2018). Primary outcomes months. Secondary include knowledge, state general anxiety, depression, cancer-specific distress in versus...
The Generation Study 1 is an Alzheimer's prevention trial recruiting 60-75 year old APOE e4 homozygotes. Participants have to learn their genotype screen for this trial. While some studies reported favorable psychosocial outcomes after disclosure, in homozygotes and diverse populations remain limited. are recruited through the Prevention Initiative Program, enrolling carriers preclinical disease trials. A pre-disclosure educational video informs participants about disease, considerations...
Abstract As the provision of telehealth genetic counseling (THGC) services continues to expand, it is imperative that students gain proficiency in service delivery. To prepare provide THGC services, MSGC program at University Pennsylvania has included didactic sessions on THGC, role plays, standardized patient sessions, and fieldwork experiences clinical rotations. This article highlights best practices guidance for Master Science Genetic Counseling (MSGC) programs training next generation...
Forty cases of cervical (excluding supraclavicular) node metastases from unknown primary tumors were observed at the medical oncology department a large general hospital. Histologically they epidermoid carcinoma (18 cases), undifferentiated (16 cases) and adenocarcinoma (6 cases). In 8 patients was subsequently diagnosed. Four untreatable or refused treatment when The 3-year survival 36 treated only 22% - indicating poor prognosis is for this uncommon form presentation. Patients should be as...