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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.

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

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
StandardNameIDSource
caDSR 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

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 IDVariable DescriptiondbGaP Mapping
PX310401_Genomics_Knowledge_DNA_Gene_Building_Blocks
PX310401050000 The DNA in a gene is made of four building more
blocks (A, C, T, and G). show less
N/A
PX310401_Genomics_Knowledge_Exome_Sequence_Find_Many_Variants
PX310401200000 Whole exome sequencing can find variants in more
many genes at once. show less
N/A
PX310401_Genomics_Knowledge_Exome_Sequence_Future_Meaning
PX310401240000 The gene variants that whole exome more
sequencing can find today could have different meanings in the future as scientists learn more about how genes work. show less
N/A
PX310401_Genomics_Knowledge_Exome_Sequence_Genetic_Disorder
PX310401220000 Whole exome sequencing could find that you more
have a high risk for a disorder even if you do not have symptoms. show less
N/A
PX310401_Genomics_Knowledge_Exome_Sequence_Genetic_Disorder_Cause
PX310401230000 Your whole exome sequencing may not find the more
cause of your disorder, even if it is genetic. show less
N/A
PX310401_Genomics_Knowledge_Exome_Sequence_Gene_Variant_Healthy
PX310401250000 Whole exome sequencing will not find any more
variants in people who are healthy. show less
N/A
PX310401_Genomics_Knowledge_Exome_Sequence_Interpretation
PX310401210000 Whole exome gene sequencing will find more
variants that cannot be interpreted at the present time. show less
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
proteins our bodies make. show less
N/A
PX310401_Genomics_Knowledge_Genetic_Disorders_Inherited
PX310401130000 Genetic disorders are always inherited from more
a parent. show less
N/A
PX310401_Genomics_Knowledge_Genetic_Disorder_Child_Chance
PX310401150000 Everyone has a chance for having a child more
with a genetic disorder. show less
N/A
PX310401_Genomics_Knowledge_Genetic_Disorder_Single_Instance
PX310401140000 If only one person in the family has a more
disorder, it can't be genetic. show less
N/A
PX310401_Genomics_Knowledge_Genetic_Information_Genome
PX310401030000 All of a person's genetic information is more
called his or her genome. show less
N/A
PX310401_Genomics_Knowledge_Genetic_Inheritance_Appearance
PX310401170000 A mother and daughter who look alike are more
more genetically similar than a mother and daughter who do not look alike. show less
N/A
PX310401_Genomics_Knowledge_Genetic_Inheritance_Gender
PX310401160000 A girl inherits most of her genes from her more
mother, while a boy inherits most of his genes from his father. show less
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
eventually have symptoms. show less
N/A
PX310401_Genomics_Knowledge_Gene_Variant_Affect_Disorder
PX310401110000 Some gene variants decrease the chance of more
developing a disorder. show less
N/A
PX310401_Genomics_Knowledge_Gene_Variant_Degree_Effects
PX310401100000 Some gene variants have a large effect in more
health, while others have a small effect. show less
N/A
PX310401_Genomics_Knowledge_Gene_Variant_Effects
PX310401070000 Gene variants can have positive effects, more
harmful effects, or no effects on health. show less
N/A
PX310401_Genomics_Knowledge_Gene_Variant_Inherited_All_Children
PX310401190000 If one of your parents has a gene variant, more
your brother or sister may also have it. show less
N/A
PX310401_Genomics_Knowledge_Gene_Variant_Inherited_Harmful
PX310401180000 If a parent has a harmful gene variant, all more
of his or her children will inherit it. show less
N/A
PX310401_Genomics_Knowledge_Gene_Variant_Same_Symptoms
PX310401120000 Two unrelated people with the same genetic more
variant will always have the same symptoms. show less
N/A
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

Measure Protocols
Protocol ID Protocol Name
310401 Baseline Knowledge of Genomics
Publications

There are no publications listed for this protocol.