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Protocol - Baseline Knowledge of Genomics

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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

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.

Protocol Name from Source

University of North Carolina Genomic Knowledge Scale (UNC-GKS)

Availability

Available

Personnel and Training Required

None

Equipment Needs

None

Requirements
Requirement CategoryRequired
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

Life Stage

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
StandardNameIDSource
Common Data Elements (CDE) Genomic Medicine Implementation University of North Carolina Genomic Knowledge Scale Assessment Score 7409047 CDE Browser
Derived Variables

None

Process and Review

Not applicable

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 IDVariable DescriptiondbGaP Mapping
Genomic Medicine Implementation
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