MP28-19 DERMATOLOGIC FINDINGS AND FAMILY HISTORY ARE THE ONLY PREDICTORS OF A POSITIVE GENETIC TEST RESULT IN PATIENTS WITH A SUSPECTED HEREDITARY KIDNEY CANCER SYNDROME: EXPERIENCE FROM A PROVINCIAL GENETICS UNIT

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.

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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)

10.2196/preprints.29706 ◽

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

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Using a genetic test result in the care of family members: how does the duty of confidentiality apply?

European Journal of Human Genetics ◽

10.1038/s41431-018-0138-y ◽

2018 ◽

Vol 26 (7) ◽

pp. 955-959 ◽

Cited By ~ 10

Author(s):

Michael Parker ◽

Anneke Lucassen

Keyword(s):

Genetic Test ◽

Family Members ◽

Genetic Test Result ◽

Test Result

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

Genetics in Medicine ◽

10.1097/gim.0b013e31812e6220 ◽

2007 ◽

Vol 9 (8) ◽

pp. 487-495 ◽

Cited By ~ 46

Author(s):

Jean Jenkins ◽

Kathleen A Calzone ◽

Eileen Dimond ◽

David J Liewehr ◽

Seth M Steinberg ◽

...

Keyword(s):

Genetic Test ◽

Genetic Test Result ◽

Test Result

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Clinical predictors of a positive test result in patients undergoing genetic evaluation for a hereditary kidney cancer syndrome

Canadian Urological Association Journal ◽

10.5489/cuaj.6264 ◽

2019 ◽

Vol 14 (8) ◽

Author(s):

Andrea Kokorovic ◽

Aidan Thomas ◽

Jesus Serrano-Lomelin ◽

Meghan Ferguson ◽

Ricardo A. Rendon

Keyword(s):

High Risk ◽

Kidney Cancer ◽

Genetic Counselling ◽

Real Life ◽

Medical Genetics ◽

Positive Test ◽

Positive Test Result ◽

Clinical Implementation ◽

Cancer Syndrome ◽

Test Result

Introduction: Guidelines are available to assist providers in identifying patients with renal cell carcinoma (RCC) that may benefit from genetic counselling, however, the evidence for these recommendations lacks support from the literature and controversy remains as to who should be referred. We aimed to delineate risk factors associated with a positive genetic test in a real-life cohort of patients with RCC referred to a regional medical genetics unit for evaluation of a hereditary kidney cancer syndrome. Methods: Patients with a diagnosis of RCC referred to Maritime Medical Genetics Service (Nova Scotia, Canada) from 2006–2017 were reviewed using retrospective data. The primary outcome was identification of clinical features that were associated with a positive test result. Logistic regression models were used for analysis. Results: A total of 135 patients were referred to medical genetics for evaluation; 102 patients were evaluated, 75 underwent testing, and 74 were included in the final analysis. Five patients tested positive: three Birt Hogg Dube, one Cowden syndrome, and one Von Hippel Lindau. Presence of dermatological lesions (specifically fibrofolliculomas) and more than two high-risk features were the only predictors of a positive test result. Conclusions: The presence of dermatological lesions and more than two high-risk features are the only predictors of a positive test result in patients with a suspected hereditary kidney cancer syndrome. These findings are not reflected in current guidelines, and the clinical implementation of our results may improve the identification of high-risk patients for genetic counselling.

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