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

Purpose Women from BRCA mutation–positive families who do not carry the family-specific mutation are generally at average cancer risk and therefore do not require intensive risk management. Methods Participants were female noncarriers from BRCA mutation–positive families who had responded to 3 yearly follow-up questionnaires and had chosen to either receive or not receive their genetic test result. In the former group, undertaking mammography younger than age 40 years or more than once every 2 years, clinical breast examination (CBE) more than yearly, breast self-examination (BSE) more than monthly, or any transvaginal ultrasound (TVU) or CA-125 was considered overscreening. Screening behaviors of women who did and did not know their genetic test result were compared. Logistic regression and nonparametric analyses were performed to identify demographic and psychosocial factors (respectively) associated with overscreening. Results Of 325 eligible women, 116 knew their mutation status and 209 did not. For the first group, proportions overscreening were mammography, 53%; CBE, 10%; BSE, 11%; TVU, 7%; and CA-125, 10%. There were no significant differences in screening behaviors between the groups. In those aware of their mutation status, parous women were more likely to overuse mammography (odds ratio [OR] = 4.4; 95% CI, 1.1 to 17; P = .03) and women with one or more first-degree relative with ovarian cancer (OC) were more likely to overuse OC screening (TVU: OR = 6.00; 95% CI, 1.0 to 35.1; P = .047, and CA-125: OR = 6.50; 95% CI, 1.49 to 28.4; P = .013). Conclusion The reasons for overuse of screening (particularly mammography) by mutation noncarriers require additional elucidation given the potential for harm.

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Colorectal Cancer Risk Perception on the Basis of Genetic Test Results in Individuals at Risk for Lynch Syndrome

Journal of Clinical Oncology ◽

10.1200/jco.2008.18.6940 ◽

2009 ◽

Vol 27 (24) ◽

pp. 3981-3986 ◽

Cited By ~ 16

Author(s):

Shilpa Grover ◽

Elena M. Stoffel ◽

Rowena C. Mercado ◽

Beth M. Ford ◽

Wendy K. Kohlman ◽

...

Keyword(s):

Colorectal Cancer ◽

Genetic Testing ◽

Risk Perception ◽

Cancer Risk ◽

Lynch Syndrome ◽

Genetic Test ◽

Genetic Test Result ◽

Test Results ◽

Genetic Test Results ◽

Test Result

Purpose Lynch syndrome is associated with inherited germline mutations in mismatch repair (MMR) genes. Genetic testing in high-risk individuals may yield indeterminate results if no mutation is found or if a mutation of unclear pathogenic significance is observed. There are limited data regarding how well patients with Lynch syndrome understand the clinical implications of genetic test results. This study examines colorectal cancer (CRC) risk perception in individuals tested for MMR mutations and identifies the factors associated with an appropriate interpretation of their cancer risk. Patients and Methods A total of 159 individuals who met the Revised Bethesda Guidelines and had previously undergone genetic testing completed a questionnaire eliciting demographic data, cancer history, genetic test results, and an estimate of their CRC risk. Associations between clinical factors, genetic test results, and CRC risk perception were explored using multivariable analyses. Results Of the 100 individuals with a pathogenic mutation (true positive), 90 (90%) correctly estimated their CRC risk as “high” or “very high” compared with other individuals their age. However, only 23 (62%) of 37 individuals with an indeterminate genetic test result correctly estimated their risk. Individuals with a history of Lynch syndrome–associated cancer (odds ratio [OR], 0.1; 95% CI, 0.1 to 0.6) or indeterminate genetic test results (OR, 0.2; 95% CI, 0.1 to 0.6) were significantly less likely to estimate their CRC risk as increased. Conclusion Patients at risk for Lynch syndrome with an indeterminate genetic test result may be falsely reassured. It is important that health care providers continue to discuss the implications of uninformative results on lifetime cancer risk.

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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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Genetic test result alone not enough to change lifestyle

Nursing Standard ◽

10.7748/ns.15.39.10.s27 ◽

2001 ◽

Vol 15 (39) ◽

pp. 10-10

Keyword(s):

Genetic Test ◽

Genetic Test Result ◽

Test Result

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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

Journal of Genetic Counseling ◽

10.1007/s10897-016-0010-6 ◽

2016 ◽

Vol 26 (2) ◽

pp. 251-260 ◽

Cited By ~ 9

Author(s):

Andrea Farkas Patenaude ◽

Katherine A. Schneider

Keyword(s):

Young Adult ◽

Adult Children ◽

Genetic Test ◽

Genetic Test Result ◽

Cancer Genetic ◽

Test Result

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

Journal of Clinical Oncology ◽

10.1200/jco.2017.35.15_suppl.1582 ◽

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.

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