scholarly journals Issues Arising in Psychological Consultations to Help Parents Talk to Minor and Young Adult Children about their Cancer Genetic Test Result: a Guide to Providers

2016 ◽  
Vol 26 (2) ◽  
pp. 251-260 ◽  
Author(s):  
Andrea Farkas Patenaude ◽  
Katherine A. Schneider
Keyword(s):  
Young Adult ◽  
Adult Children ◽  
Genetic Test ◽  
Genetic Test Result ◽  
Cancer Genetic ◽  
Test Result

Patient recommendations for content and design for electronic return of genetic test results: An interview study among patients who accessed their genetic test results online (Preprint)

2021 ◽  
Author(s):  
Diane M Korngiebel ◽  
Kathleen McGlone West
Keyword(s):  
Patient Preferences ◽  
Genetic Test ◽  
Smartphone Application ◽  
Patient Portal ◽  
Genetic Test Result ◽  
Test Results ◽  
User Centered Design ◽  
Detailed Report ◽  
Genetic Test Results ◽  
Test Result

BACKGROUND Genetic test results will be increasingly made available electronically as more patient-facing tools are developed; however, little research has been done that collects patient preferences for content and design before creating results templates. OBJECTIVE This study identifies patient preferences for electronic return of genetic test results, including what considerations should be prioritized for content and design. METHODS Following User-Centered Design methods, 59 interviews were conducted using semi-structured protocols. The interviews explored content and design issues for patient portal results return for patients who received electronic results for specific types of genetic tests (pharmacogenomic, hereditary blood disorders, and positive and negative risk results for heritable cancers) or who had electronically received any type of genetic test result as well as a non-genetic test result. RESULTS In general, a majority of participants felt that there always needed to be some clinician involvement in electronic results return and that electronic coversheets with simple summaries would be helpful for facilitating that. Coversheet summaries could accompany, but not replace, the more detailed report. Participants had specific suggestions for those results summaries, such as only reporting the information that was most important for patients to understand, including next steps, and to do so using clear language free of medical jargon. Electronic results return should also include explicit encouragement for patients to contact providers with questions. Finally, many participants preferred to manage their care using their smartphones, particularly in instances where they needed to access health information on the go. CONCLUSIONS Participants recommended that a patient-friendly front section accompany the more detailed report and made suggestions for organization, content, and wording. Many used their smartphones regularly to access test results, therefore, health systems and patient portal software vendors should accommodate smartphone application design and web portal design concomitantly when developing results return platforms. CLINICALTRIAL N/A

scholarly journals Randomized comparison of phone versus in-person BRCA1/2 predisposition genetic test result disclosure counseling

2007 ◽  
Vol 9 (8) ◽  
pp. 487-495 ◽  
Author(s):  
Jean Jenkins ◽  
Kathleen A Calzone ◽  
Eileen Dimond ◽  
David J Liewehr ◽  
Seth M Steinberg ◽  
...  
Keyword(s):  
Genetic Test ◽  
Genetic Test Result ◽  
Test Result

scholarly journals Impact of mismatch repair (MMR) genetic test result on perceived cancer risk and cancer screening

2010 ◽  
Vol 8 (Suppl 1) ◽  
pp. P6
Author(s):  
Monica Dandapani ◽  
Margery Rosenblatt ◽  
Anu Chittenden ◽  
Rowena Mercado ◽  
Judy E Garber ◽  
...  
Keyword(s):  
Cancer Screening ◽  
Cancer Risk ◽  
Mismatch Repair ◽  
Genetic Test ◽  
Genetic Test Result ◽  
Test Result

Melanoma genetic testing to promote reductions in tanning: Results from the Utah BRIGHT project.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1582-1582
Author(s):  
Lisa Aspinwall ◽  
Tammy K. Stump ◽  
Jennifer M. Taber ◽  
Wendy Kohlmann ◽  
Marjan Champine ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Genetic Test ◽  
Disease Onset ◽  
Skin Type ◽  
Control Group ◽  
Genetic Test Result ◽  
Family Medical History ◽  
Management Recommendations ◽  
Test Result

1582 Background: Predictive genetic testing for familial cancer may alert people to highly elevated risk prior to disease onset. Genetic test reporting has been shown to improve uptake of prophylactic screening and procedures, but whether test reporting also promotes increased performance of primary preventive behavior is unknown. Methods: Unaffected adult participants ( N= 124) from high-risk melanoma families, ages 16-69 (mean = 35.24, 52% men) were enrolled. Participants from families that carried a CDKN2A/p16 mutation received a personal genetic test result and counseling about management recommendations whereas control participants from families without a CDKN2A/16 mutation received equivalent counseling and management recommendations based on family history alone. Photoprotection outcomes were compared between CDKN2A/p16 participants (31 carriers, 44 noncarriers) and the no-test control group ( n= 49), allowing the effects of receiving a genetic test result to be distinguished from the effects of counseling alone. Assessments were seasonally timed to capture tanning during the summer months. Melanin Index (MI) scores, measures of skin tanning obtained through reflectance spectroscopy, were assessed at the dorsal wrist and face. Tanning of the dorsal wrist and face were calculated by subtracting baseline MI scores at an unexposed site on the same individual. Results: Multilevel model analyses examined changes in tanning over time while controlling for clinician-rated skin type, age, gender, date of assessment, and group differences in phenotypic factors and family medical history. Participants who received positive test results were significantly less tan at the wrist one year after their previous summer baseline ( b= -.11, p< .001). No-test controls and noncarriers had no change in tanning. The magnitude of decrease in tanning measurements observed among CDKN2A/ p16 carriers approximated one skin type. Facial tanning did not differ from baseline for any group. Conclusions: A positive melanoma genetic test result promotes reduced UVR exposure. Future research should examine why positive genetic test reports were more motivating to patients than equivalent counseling based on family history.

Likelihood of Attending Bowel Screening after a Negative Genetic Test Result: The Possible Influence of Health Professionals

2002 ◽  
Vol 6 (4) ◽  
pp. 307-311 ◽  
Author(s):  
Susan Michie ◽  
Veronica Collins ◽  
Jane Halliday ◽  
Theresa M. Marteau
Keyword(s):  
Health Professionals ◽  
Genetic Test ◽  
Genetic Test Result ◽  
Test Result

scholarly journals Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol

2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Anna Mega ◽  
Samantha Galluzzi ◽  
Cristian Bonvicini ◽  
Silvia Fostinelli ◽  
Massimo Gennarelli ◽  
...  
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Frontotemporal Dementia ◽  
Genetic Counselling ◽  
Psychological Assessment ◽  
Genetic Test ◽  
Case Series ◽  
Genetic Test Result ◽  
Test Result

Abstract Background A consensus protocol for genetic counselling and testing of familial dementia, the Italian Dominantly Inherited Alzheimer’s and Frontotemporal Network (IT-DIAfN) protocol, has been developed in Italy by a network of expert dementia centres. The aim of this study is to evaluate feasibility and acceptability of the genetic counselling and testing process, as undertaken according to the IT-DIAfN protocol in one of the IT-DIAfN dementia research centres. Methods The protocol was tested by a multidisciplinary team at the IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy, on affected individuals with suspected inherited forms of Alzheimer’s disease (AD) or frontotemporal dementia (FTD), and to healthy at-risk relatives. The genetic counselling and testing process consisted of (i) pre-test consultation and psychological assessment (ii) genetic testing, (iii) genetic test result disclosure and (iv) follow-up consultation and psychological assessment. Results Twenty affected individuals from 17 families fulfilled the family history criteria of the IT-DIAfN protocol for suspected inherited dementia (17 for AD, 2 for FTD, 1 for inclusion body myopathy with Paget disease of bone and frontotemporal dementia) and were included in the protocol. Nineteen out of 20 affected individuals received the genetic test result (one left after the pre-test consultation being not ready to cope with an unfavourable outcome). A pathogenic mutation was found in 6 affected individuals (1 in PSEN1, 2 in PSEN2, 1 in GRN, 1 in MAPT, 1 in VCP). Eleven healthy at-risk relatives asked to undergo predictive testing and were included in the protocol. Three completed the protocol, including follow-up; one did not ask for the genetic test result after genetic testing; and eight withdrew before the genetic testing, mainly due to an increased awareness about the possible consequences of an unfavourable test result. To date, no catastrophic reactions were reported at the follow-up. Conclusions Our case series shows that a structured genetic counselling and testing protocol for inherited dementia can be implemented in both affected individuals and at-risk relatives in a research setting. The procedure was shown to be safe in terms of occurrence of catastrophic events. A formal validation in larger cohorts is needed.

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