Protocol - Baseline Knowledge of Genomics
Description
The University of North Carolina Genomic Knowledge Scale (UNC-GKS) was developed to assess knowledge domains thought to be critical for making informed decisions about undergoing genomic sequencing (e.g., for medical diagnosis, public health applications, or guiding treatment decision making), comprehending the meaning and limitations of results, and taking appropriate actions upon learning results. The scale assesses knowledge of basic biology, probabilistic versus deterministic inheritance of traits, inheritance patterns and penetrance, and genetic technology capabilities and limitations. The score can be applied once, or it can be applied longitudinally in order to score the development of baseline knowledge over time.
Specific Instructions
None
Availability
Protocol
This section will help us understand what information people need to know in order to understand their sequencing results. Before you begin, you should know that we are using the term “gene variant” to mean a version of a gene. Sometimes two people have the same version of a gene (they have the same gene variant), and other times two people have different versions of a gene (they have different gene variants).
Below is a list of statements. They are either true or false. For each statement:
- Select True if you think it is true
- Select False if you think it is false
- Select Don’t know/uncertain if you are not sure or don’t know.
Please answer all of the questions. Don’t worry if you do not know the right answers. We do not expect you to answer all of these correctly.
Information About Genes
1. Genes are made of DNA.
[ ] True
[ ] False
[ ] Don’t know/uncertain
2. Genes affect health by influencing the proteins our bodies make.
[ ] True
[ ] False
[ ] Don’t know/uncertain
3. All of a person’s genetic information is called his or her genome.
[ ] True
[ ] False
[ ] Don’t know/uncertain
4. A person’s genes change completely every 7 years.
[ ] True
[ ] False
[ ] Don’t know/uncertain
5. The DNA in a gene is made of four building blocks (A, C, T, and G).
[ ] True
[ ] False
[ ] Don’t know/uncertain
6. Everyone has about 20,000 to 25,000 genes.
[ ] True
[ ] False
[ ] Don’t know/uncertain
Genes and health
7. Gene variants can have positive effects, harmful effects, or no effects on health.
[ ] True
[ ] False
[ ] Don’t know/uncertain
8. Most gene variants will affect a person’s health.
[ ] True
[ ] False
[ ] Don’t know/uncertain
9. Everyone who has a harmful gene variant will eventually have symptoms.
[ ] True
[ ] False
[ ] Don’t know/uncertain
10. Some gene variants have a large effect in health, while others have a small effect.
[ ] True
[ ] False
[ ] Don’t know/uncertain
11. Some gene variants decrease the chance of developing a disorder.
[ ] True
[ ] False
[ ] Don’t know/uncertain
12. Two unrelated people with the same genetic variant will always have the same symptoms.
[ ] True
[ ] False
[ ] Don’t know/uncertain
How genes are inherited in families
13. Genetic disorders are always inherited from a parent.
[ ] True
[ ] False
[ ] Don’t know/uncertain
14. If only one person in the family has a disorder, it can’t be genetic.
[ ] True
[ ] False
[ ] Don’t know/uncertain
15. Everyone has a chance for having a child with a genetic disorder.
[ ] True
[ ] False
[ ] Don’t know/uncertain
16. A girl inherits most of her genes from her mother, while a boy inherits most of his genes from his father.
[ ] True
[ ] False
[ ] Don’t know/uncertain
17. A mother and daughter who look alike are more genetically similar than a mother and daughter who do not look alike.
[ ] True
[ ] False
[ ] Don’t know/uncertain
18. If a parent has a harmful gene variant, all of his or her children will inherit it.
[ ] True
[ ] False
[ ] Don’t know/uncertain
19. If one of your parents has a gene variant, your brother or sister may also have it.
[ ] True
[ ] False
[ ] Don’t know/uncertain
Whole exome sequencing
20. Whole exome sequencing can find variants in many genes at once.
[ ] True
[ ] False
[ ] Don’t know/uncertain
21. Whole exome gene sequencing will find variants that cannot be interpreted at the present time.
[ ] True
[ ] False
[ ] Don’t know/uncertain
22. Whole exome sequencing could find that you have a high risk for a disorder even if you do not have symptoms.
[ ] True
[ ] False
[ ] Don’t know/uncertain
23. Your whole exome sequencing may not find the cause of your disorder, even if it is genetic.
[ ] True
[ ] False
[ ] Don’t know/uncertain
24. The gene variants that whole exome sequencing can find today could have different meanings in the future as scientists learn more about how genes work.
[ ] True
[ ] False
[ ] Don’t know/uncertain
25. Whole exome sequencing will not find any variants in people who are healthy.
[ ] True
[ ] False
[ ] Don’t know/uncertain
Scoring:
1. Code all responses as having been answered correctly (=1) or incorrectly (=0). Items marked as “don’t know” are scored as incorrect (=0).
- Items that are correct if endorsed as “True”: Q1, Q2, Q3, Q5, Q6, Q7, Q10, Q11, Q15, Q19, Q20, Q21, Q22, Q23, Q24
- Items that are correct if endorsed as “False”: Q4, Q8, Q9, Q12, Q13, Q14, Q16, Q17, Q18, Q25
2. Sum scores across items to create a score from 0 to 25.
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
Adolescent, Adult
Participants
Age 17 and older
Selection Rationale
The scale is validated, not condition specific, relatively brief, and spans basic gene-related science, health literacy, and genomic technology capabilities. This scale can be used to assess basic education and understanding of genetics through to understanding of current technological capabilities and health implications. Whole exome sequencing (WES) can be replaced with any other multi-gene testing modality (e.g. whole genome sequencing and multi-gene panel testing).
Language
English
Standards
| Standard | Name | ID | Source |
|---|
Derived Variables
None
Process and Review
Not applicable
Protocol Name from Source
University of North Carolina Genomic Knowledge Scale (UNC-GKS)
Source
Langer, M., Roche, M. I., Brewer, N. T., Berg, J., Khan, C. M., Leos, C., Moore, E., Brown, M., & Rini, C. (2017). Development and validation of a genomic knowledge scale to advance informed decision-making research in genomic sequencing. MDM Policy & Practice, 2, 1–13.
Content shared via Creative Commons Attribution-NonCommercial 3.0 License (http://www.creativecommons.org/licenses/by-nc/3.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage)
General References
Palk, A. C., Dalvie, S., de Vries, J., Martin, A. R., & Stein, D. J. (2019). Potential use of clinical polygenic risk scores in psychiatry—Ethical implications and communicating high polygenic risk. Philosophy, Ethics, and Humanities in Medicine, 14, 4.
Sanderson, S. C., Loe, B. S., Freeman, M., Gabriel, C., Stevenson, D. C., Gibbons, C., Chitty, L., & Lewis, C. (2018). Development of the Knowledge of Genome Sequencing (KOGS) questionnaire. Patient Education and Counseling, 101, 1966–1972.
Protocol ID
310401
Variables
Export Variables| Variable Name | Variable ID | Variable Description | dbGaP Mapping | |
|---|---|---|---|---|
| PX310401_Genomics_Knowledge_DNA_Gene_Building_Blocks | ||||
| PX310401050000 | The DNA in a gene is made of four building more | N/A | ||
| PX310401_Genomics_Knowledge_Exome_Sequence_Find_Many_Variants | ||||
| PX310401200000 | Whole exome sequencing can find variants in more | N/A | ||
| PX310401_Genomics_Knowledge_Exome_Sequence_Future_Meaning | ||||
| PX310401240000 | The gene variants that whole exome more | N/A | ||
| PX310401_Genomics_Knowledge_Exome_Sequence_Genetic_Disorder | ||||
| PX310401220000 | Whole exome sequencing could find that you more | N/A | ||
| PX310401_Genomics_Knowledge_Exome_Sequence_Genetic_Disorder_Cause | ||||
| PX310401230000 | Your whole exome sequencing may not find the more | N/A | ||
| PX310401_Genomics_Knowledge_Exome_Sequence_Gene_Variant_Healthy | ||||
| PX310401250000 | Whole exome sequencing will not find any more | N/A | ||
| PX310401_Genomics_Knowledge_Exome_Sequence_Interpretation | ||||
| PX310401210000 | Whole exome gene sequencing will find more | N/A | ||
| PX310401_Genomics_Knowledge_Genes_Affect_Health | ||||
| PX310401080000 | Most gene variants will affect a person's health. | N/A | ||
| PX310401_Genomics_Knowledge_Genes_Change_Seven_Years | ||||
| PX310401040000 | A person's genes change completely every 7 years. | N/A | ||
| PX310401_Genomics_Knowledge_Genes_DNA | ||||
| PX310401010000 | Genes are made of DNA. | N/A | ||
| PX310401_Genomics_Knowledge_Genes_Health | ||||
| PX310401020000 | Genes affect health by influencing the more | N/A | ||
| PX310401_Genomics_Knowledge_Genetic_Disorders_Inherited | ||||
| PX310401130000 | Genetic disorders are always inherited from more | N/A | ||
| PX310401_Genomics_Knowledge_Genetic_Disorder_Child_Chance | ||||
| PX310401150000 | Everyone has a chance for having a child more | N/A | ||
| PX310401_Genomics_Knowledge_Genetic_Disorder_Single_Instance | ||||
| PX310401140000 | If only one person in the family has a more | N/A | ||
| PX310401_Genomics_Knowledge_Genetic_Information_Genome | ||||
| PX310401030000 | All of a person's genetic information is more | N/A | ||
| PX310401_Genomics_Knowledge_Genetic_Inheritance_Appearance | ||||
| PX310401170000 | A mother and daughter who look alike are more | N/A | ||
| PX310401_Genomics_Knowledge_Genetic_Inheritance_Gender | ||||
| PX310401160000 | A girl inherits most of her genes from her more | N/A | ||
| PX310401_Genomics_Knowledge_Gene_Count | ||||
| PX310401060000 | Everyone has about 20,000 to 25,000 genes. | N/A | ||
| PX310401_Genomics_Knowledge_Gene_Harmful_Variant_Symptoms | ||||
| PX310401090000 | Everyone who has a harmful gene variant will more | N/A | ||
| PX310401_Genomics_Knowledge_Gene_Variant_Affect_Disorder | ||||
| PX310401110000 | Some gene variants decrease the chance of more | N/A | ||
| PX310401_Genomics_Knowledge_Gene_Variant_Degree_Effects | ||||
| PX310401100000 | Some gene variants have a large effect in more | N/A | ||
| PX310401_Genomics_Knowledge_Gene_Variant_Effects | ||||
| PX310401070000 | Gene variants can have positive effects, more | N/A | ||
| PX310401_Genomics_Knowledge_Gene_Variant_Inherited_All_Children | ||||
| PX310401190000 | If one of your parents has a gene variant, more | N/A | ||
| PX310401_Genomics_Knowledge_Gene_Variant_Inherited_Harmful | ||||
| PX310401180000 | If a parent has a harmful gene variant, all more | N/A | ||
| PX310401_Genomics_Knowledge_Gene_Variant_Same_Symptoms | ||||
| PX310401120000 | Two unrelated people with the same genetic more | N/A | ||
Measure Name
Baseline Knowledge of Genomics
Release Date
September 10, 2020
Definition
A questionnaire used to determine how much a person knows about genes, gene sequencing, and how gene sequencing is used for clinical purposes. This measure spans basic biology to clinical applications and technological approaches.
Purpose
Individuals need a baseline knowledge of genes and genomics to fully understand how genetic tests or genome sequencing can benefit or harm them or their family members. Individuals interpret, or may be prepared to interpret, genetic results with various levels of sophistication based on the baseline knowledge of genomics.
Keywords
Whole genome sequencing, knowledge, whole exome sequencing, informed decision making, genetics, genomics
Measure Protocols
| Protocol ID | Protocol Name |
|---|---|
| 310401 | Baseline Knowledge of Genomics |
Publications
There are no publications listed for this protocol.