scholarly journals A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians

2013 ◽  
Vol 16 (1) ◽  
pp. 60-69 ◽  
Author(s):  
Maren T. Scheuner ◽  
Alison B. Hamilton ◽  
Jane Peredo ◽  
Taylor J. Sale ◽  
Colletta Austin ◽  
...  
2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 1530-1530
Author(s):  
Lynn McCain ◽  
Kara J. Milliron ◽  
Amanda Cook ◽  
Lee Schroeder ◽  
James Arthurs ◽  
...  

1530 Background: Identifying the ~60 million unaffected persons in the US at risk for inherited cancers has the potential to reduce their cancer risk by up to 95%. However, most of these individuals are not identified currently because of multifactorial deficits in the 3-generation pedigree collection in clinical settings. Methods: Here we evaluated the impact InheRET, an online family history gathering and risk assessment reporting tool, has on facilitating National Comprehensive Cancer Network (NCCN) Guideline-compliant referrals for cancer genetic counseling/genetic evaluation by decreasing and/or removing the barriers of 1) in-clinic 3-generation family history collection, and 2) interpretation of the family and personal history in light of current NCCN Guidelines. Patients enrolled from primary care and specialty clinics completed the family health history from a web-enabled devices using InheRET Inherited Risk Evaluation Tool. Results: Of 255 enrolled patients, 78.4% completed the history form and, of these, 86.5% completed the feedback survey. 39.2% of primary care and 79.9% of specialty cancer genetics patients were found to be at increased risk. Patients with ≤ HS education ranked InheRET at 4.7/5.0 for Understandability and 3.33/5.0 for Ease of Use. Following the addition of clarifying directions, they ranked InheRET at 5.0 and 4.0, respectively. Pts. <60 ranked InheRET between 3.5 and 3.8 on Ease of Use, while those 60-69 and 70+ ranked it 3.0 and 2.7, respectively, potentially reflective of lower technical skills. Age did not impact Understandability. In the cancer genetics clinic, 86% of pts. completed the online survey, in ~ 1 week, compared to paper forms, which required reminders, and >4 weeks to obtain. Conclusions: In this pilot, InheRET accelerated appropriate referrals and efficient utilization of genetic counseling services; improvements to navigation are being implemented prior to dissemination.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Kimberly A. Kaphingst ◽  
Wendy Kohlmann ◽  
Rachelle Lorenz Chambers ◽  
Melody S. Goodman ◽  
Richard Bradshaw ◽  
...  

Abstract Background Advances in genetics and sequencing technologies are enabling the identification of more individuals with inherited cancer susceptibility who could benefit from tailored screening and prevention recommendations. While cancer family history information is used in primary care settings to identify unaffected patients who could benefit from a cancer genetics evaluation, this information is underutilized. System-level population health management strategies are needed to assist health care systems in identifying patients who may benefit from genetic services. In addition, because of the limited number of trained genetics specialists and increasing patient volume, the development of innovative and sustainable approaches to delivering cancer genetic services is essential. Methods We are conducting a randomized controlled trial, entitled Broadening the Reach, Impact, and Delivery of Genetic Services (BRIDGE), to address these needs. The trial is comparing uptake of genetic counseling, uptake of genetic testing, and patient adherence to management recommendations for automated, patient-directed versus enhanced standard of care cancer genetics services delivery models. An algorithm-based system that utilizes structured cancer family history data available in the electronic health record (EHR) is used to identify unaffected patients who receive primary care at the study sites and meet current guidelines for cancer genetic testing. We are enrolling eligible patients at two healthcare systems (University of Utah Health and New York University Langone Health) through outreach to a randomly selected sample of 2780 eligible patients in the two sites, with 1:1 randomization to the genetic services delivery arms within sites. Study outcomes are assessed through genetics clinic records, EHR, and two follow-up questionnaires at 4 weeks and 12 months after last genetic counseling contactpre-test genetic counseling. Discussion BRIDGE is being conducted in two healthcare systems with different clinical structures and patient populations. Innovative aspects of the trial include a randomized comparison of a chatbot-based genetic services delivery model to standard of care, as well as identification of at-risk individuals through a sustainable EHR-based system. The findings from the BRIDGE trial will advance the state of the science in identification of unaffected patients with inherited cancer susceptibility and delivery of genetic services to those patients. Trial registration BRIDGE is registered as NCT03985852. The trial was registered on June 6, 2019 at clinicaltrials.gov.


2005 ◽  
Vol 20 (3) ◽  
pp. 315-315 ◽  
Author(s):  
EC Rich ◽  
W Burke ◽  
CJ Heaton ◽  
S Haga ◽  
L Pinsky ◽  
...  

2003 ◽  
Vol 89 (9) ◽  
pp. 1650-1656 ◽  
Author(s):  
H Campbell ◽  
S Holloway ◽  
R Cetnarskyj ◽  
E Anderson ◽  
R Rush ◽  
...  

2017 ◽  
Vol 35 (4_suppl) ◽  
pp. 23-23
Author(s):  
Niamh Peters ◽  
Sinead King ◽  
Emily O'Donovan ◽  
David James Gallagher ◽  
John V Reynolds

23 Background: Oesophageal cancer (OC) accounts for 400 deaths in Ireland per year. Prognosis remains poor, and improved prevention is needed. Familial clustering has been described however, The Nordic Twin Study of Cancer does not support a strong hereditability. We investigated familial OC over a decade in Ireland. Methods: The independent records of two national referral services were reviewed: an oesophageal surgery database and a hereditary cancer genetics database. Demographic Factors including family history of OC were recorded from the surgical database. Families containing a single OC diagnosis were identified in the genetics database. Age at diagnosis and additional cancer diagnoses in the family were recorded. Results: 1238 patients with OC were seen at St. James’s Hospital from 2005 to 2015. Demographic characteristics are shown in Table. 641 patients (51%) had a family history of malignancy. Seventy eight (6.3%) reported a family history of OC, 6 (7.6%) of whom had two or more first degree relatives with OC and 10 (13%) had both a first degree and second degree relative with OC. More male relatives were diagnosed with OC than female (59% vs 41%).The majority (24%) with a family history were diagnosed at Stage III, the majority (29%) without a family history were diagnosed at Stage II. 1840 pedigrees from the genetic database were reviewed. No pedigree contained a Proband with OC.4.5%(n = 84) included at least one family member with OC. The median age at diagnosis was 64. Breast, colorectal and gastric were the most commonly associated cancers with median ages of 50,59 and 64 respectively. Conclusions: More than half of patients presenting with OC report a family history of cancer, with likely hereditary and environmental components. OC patients are rarely referred for genetic assessment, possibly due to treatment related morbidity and poor clinical outcome. [Table: see text]


2010 ◽  
Vol 12 (4) ◽  
pp. 212-218 ◽  
Author(s):  
Louise S Acheson ◽  
Catharine Wang ◽  
Stephen J Zyzanski ◽  
Audrey Lynn ◽  
Mack T Ruffin ◽  
...  

2004 ◽  
Vol 19 (3) ◽  
pp. 273-280 ◽  
Author(s):  
Eugene C. Rich ◽  
Wylie Burke ◽  
Caryl J. Heaton ◽  
Susanne Haga ◽  
Linda Pinsky ◽  
...  

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