Protocol - Understanding Health Implications of Genomics
Description
The KnowGene Scale is a 16-item scale administered to patients after genetic testing and/or genetic counseling to measure their understanding of the health implications of genetic testing results. Includes health implications to oneself as well as relatives. This measure covers penetrance, actionability, limitations of current technology, and monogenic inheritance patterns.
Specific Instructions
The KnowGene Scale is specific to monogenic or familial cancer.
Availability
This protocol has limited availability; permission required for use.
Protocol
1. Knowing about inherited risk (passed down within a family) can affect choices about cancer treatments (for example, medications or surgery).
[ ] Agree
[ ] Disagree
[ ] Don’t know
2. People with an inherited risk for cancer (and their at-risk relatives) are more likely to develop more than one type of cancer.
[ ] Agree
[ ] Disagree
[ ] Don’t know
3. A person with inherited risk for cancer will definitely get cancer one day.
[ ] Agree
[ ] Disagree
[ ] Don’t know
4. The lifetime chance of getting cancer depends on which altered cancer gene is inherited.
[ ] Agree
[ ] Disagree
[ ] Don’t know
5. People with an inherited risk for cancer may get cancer at a younger age than people with average risk.
[ ] Agree
[ ] Disagree
[ ] Don’t know
6. In the future, more information could become available that could alter the meaning of genetic test results.
[ ] Agree
[ ] Disagree
[ ] Don’t know
7. Female-specific cancer risk, such as ovarian cancer, can generally be passed on from either the father or mother.
[ ] Agree
[ ] Disagree
[ ] Don’t know
8. The blood relatives (for example, sister, father, or child) of a person with a mutation in a cancer risk gene might share the same gene mutation.
[ ] Agree
[ ] Disagree
[ ] Don’t know
9. A person with an inherited risk for cancer may have distant relatives (for example, cousins) who also have increased cancer risk.
[ ] Agree
[ ] Disagree
[ ] Don’t know
10. All children of a person with inherited cancer risk will also have inherited cancer risk.
[ ] Agree
[ ] Disagree
[ ] Don’t know
11. In most cases, the sisters and brothers of a person with inherited risk have a 50-50 (50%) chance of having inherited risk for cancer too.
[ ] Agree
[ ] Disagree
[ ] Don’t know
12. All of the gene mutations that could increase risk for cancer have been discovered.
[ ] Agree
[ ] Disagree
[ ] Don’t know
13. If a person does not have a mutation found on genetic testing (negative result), interpreting results will depend on whether someone in the family has a known gene mutation associated with cancer risk (positive result).
[ ] Agree
[ ] Disagree
[ ] Don’t know
14. Some gene mutations mean a larger increase in the risk for cancer while others mean a smaller increase in the risk for cancer.
[ ] Agree
[ ] Disagree
[ ] Don’t know
15. A Variant of Uncertain Significance (VUS) will not likely influence recommendations for screening or prevention.
[ ] Agree
[ ] Disagree
[ ] Don’t know
16. Multi-gene panel testing could find a mutation in a gene that is not clearly associated with the pattern of cancer in the family.
[ ] Agree
[ ] Disagree
[ ] Don’t know
Items 1, 2, 4, 5, 6, 7, 8, 9, 11, 13, 14,15, and 16, the correct answer is Agree.
Reprinted from Patient Education and Counseling, Volume 102, Underhill-Blazey, M., Stopfer, J., Chittenden, A., Nayak, M.M., Lansang, K., Lederman, R., Garber, J., & Gundersen, D.A., Development and testing of the KnowGENE scale to assess general cancer genetic knowledge related to multigene panel testing, pages 1558-1564, Copyright 2019, with permission from Elsevier.
Personnel and Training Required
None
Equipment Needs
None
Requirements
| Requirement Category | Required |
|---|---|
| Major equipment | No |
| Specialized training | No |
| Specialized requirements for biospecimen collection | No |
| Average time of greater than 15 minutes in an unaffected individual | No |
Mode of Administration
Self-administered questionnaire
Lifestage
Adult
Participants
Patient after receipt of genetic results
Selection Rationale
The scale has been validated, has adequate psychometric properties, and is low burden for patients. The scale deeply assesses the understanding of health implications as a result of return of genetic results—specifically, monogenic familial cancer testing. It is most appropriate for assessing individuals who are about to or who have just undergone clinical monogenic testing.
Language
English
Standards
| Standard | Name | ID | Source |
|---|
Derived Variables
None
Process and Review
Not applicable
Protocol Name from Source
KnowGene
Source
Underhill-Blazey, M., Stopfer, J., Chittenden, A., Nayak, M. M., Lansang, K., Lederman, R., Garber, J., Gundersen, D. A. (2019). Development and testing of the KnowGene scale to assess general cancer genetic knowledge related to multigene panel testing. Patient Education and Counseling, 102, 1558–1564.
Copyright 2019, Elsevier. Posted with permission from Elsevier.
General References
Hooker, G. W., Clemens, K. R., Quilin, J., Vogel Postula, K. J., Nagy, R., & Buchanan, A. H. (2017). Cancer Genetic Counseling and Testing in an Era of Rapid Change. Journal of Genetic Counseling, 26(6), 1244–1253.
De Geus, E., Eijzenga, W., Menko, F. H., Sijomn, T. H., dr Haes, H. C., Aalfs, C. M., & Smets, E. M. (2016). Design and feasibility of an intervention to support cancer genetic counselees in informing their at-risk relatives. Journal of Genetic Counseling, 25(6), 1179–1187.
Protocol ID
311601
Variables
Export Variables| Variable Name | Variable ID | Variable Description | dbGaP Mapping | |
|---|---|---|---|---|
| PX311601_Inherited_Cancer_Risk_Cancer_Younger_Age | ||||
| PX311601050000 | People with an inherited risk for cancer may more | N/A | ||
| PX311601_Inherited_Cancer_Risk_Definitely_Develop_Cancer | ||||
| PX311601030000 | A person with inherited risk for cancer will more | N/A | ||
| PX311601_Understand_Female_Cancer_Risk_Inherit_Mother_Father | ||||
| PX311601070000 | Female-specific cancer risk, such as ovarian more | N/A | ||
| PX311601_Understand_Inherited_Cancer_Risk_Distant_Relatives_Share | ||||
| PX311601090000 | A person with an inherited risk for cancer more | N/A | ||
| PX311601_Understand_Inherited_Cancer_Risk_Sibling_Share | ||||
| PX311601110000 | In most cases, the sisters and brothers of a more | N/A | ||
| PX311601_Understand_Inherit_Health_Risk_Affect_Cancer_Treatment_Choice | ||||
| PX311601010000 | Knowing about inherited risk (passed down more | N/A | ||
| PX311601_Understand_Negative_Result_Interpretation_Depend_Relative_Has_Positive_Result | ||||
| PX311601130000 | If a person does not have a mutation found more | N/A | ||
| PX311601_Understand_Variant_Uncertain_Significance_Influence_Health_Test_Recommendation | ||||
| PX311601150000 | A Variant of Uncertain Significance (VUS) more | N/A | ||
Measure Name
Understanding Health Implications of Genomics
Release Date
September 10, 2020
Definition
An assessment of a patient’s understanding of the personal and familial health implications of genetic testing results.
Purpose
An instrument that may be used to measure a patient’s knowledge of hereditary genetics and health after genetic testing and/or genetic counseling. Patient knowledge improves decision-making around actionable genetic results, improves the uptake of necessary medical interventions, and helps the patient communicate with other family members about their potential health risks.
Keywords
genetic counseling, genetic testing, genomic testing, genetic screening, health implications, familial cancer, cancer genetics, gene panel testing
Measure Protocols
| Protocol ID | Protocol Name |
|---|---|
| 311601 | Understanding Health Implications of Genomics |