Table 2 Protocols in the genomic medicine implementation domain in the PhenX Toolkit.

Adoption of Genetic Services: Health-care Settings

Reach Effectiveness Adoption Implementation Maintenance (RE-AIM) Checklist for Study or Intervention Planning⁴

The adoption dimension of RE-AIM includes a four-item checklist used to evaluate the characteristics of settings that participate in offering genetic services or a new genetic services intervention.

4 items; program evaluation

English; health-care providers

Awareness of Pharmacogenomics

Daud et al.⁵

This series of questions can be used to determine an individual’s knowledge of pharmacogenomics (PGx) and if the individual is willing to participate in PGx research. It is beneficial for patients to understand that genetic traits may influence the effects of medications and that clinicians are using PGx for patient safety purposes.

17 items; self-administered questionnaire

Dutch and English; adults, age 18 and older, and pregnant women

Baseline Knowledge of Genomics

University of North Carolina Genomic Knowledge Scale (UNC-GKS)⁶

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.

25 items; self-administered questionnaire

English; adolescents and adults age 17 and older

Clinician Confidence in Returning Genetic Test Results

Clinical Sequencing Evidence-Generating Research Consortium (CSER), Provider Measures—Post–Return of Results Follow-up #1, Electronic Medical Records and Genomics (eMERGE) Post–Return of Results Provider Follow-up Questionnaire⁷

The health-care provider is asked about his or her knowledge of genetic results without seeking information from other sources. A scale with responses from “not at all confident” to “very confident” is used to measure the provider’s confidence. A second set of items refers to the usefulness of the genetic test results with a scale that ranges from strongly disagree to strongly agree.

9 items; self-administered or interviewer-administered questionnaire

English; health-care providers after sharing the genetic results with the patient

Information Sources for Patients After Return of Results

Information Seeking V2 from the Clinical Sequencing Evidence-Generating Research (CSER) Adult Patient Measures—Post-Return of Results Follow-up #2 (5–7 months Post-Return of Results)⁸

After a patient receives genetic test results, the patient is asked which sources were used to find out more about the genetic test results. Then the patient records a score (using a scale ranging from 1 to 5) based on the perceived usefulness of the information from the source. The patient is also encouraged to list any websites that were helpful.

4 items; self-administered or interviewer-administered questionnaire

English; adult patients or parents/guardians of a pediatric patient after genetic testing

Organizational Readiness for Change

Organizational Readiness for Implementing Change (ORIC)⁹

Organizational Readiness for Implementing Change (ORIC) is a 12-item instrument used to determine how well employees at an organization feel they can implement the change in processes required by a proposed intervention. Each item includes a Likert scale ranging from 1 (Disagree) to 5 (Agree).

12 items; program evaluation

English; college students and health-care system employees

Patient Empowerment After Genetic Services and Counseling—Genomics Outcome Scale (GOS)

Genomics Outcome Scale (GOS)¹⁰

The Genomics Outcome Scale (GOS) is a 6-item version of the 24-item Genetic Counseling Outcome Scale (GCOS-24) and focuses on empowerment as a key outcome following counseling. The GOS includes a 5-point Likert scale eliciting the respondent’s agreement, ranging from strongly disagree (1) to strongly agree (5), with each statement.

6 items; self-administered questionnaire

English; 18 years and older in United Kingdom

Patient Response to Genetic Testing

Feelings About genomiC Testing Results (FACToR)¹¹

The FACToR instrument is used to measure the psychosocial impact of returning genomic findings to patients in research and clinical practice. The instrument includes 12 items and 4 subscales (negative emotions, positive emotions, uncertainty, privacy concerns) with a 5-point Likert scale.

12 items; self-administered questionnaire

English; patients age 18 and older after genetic testing

Patient Satisfaction with Genetic Counseling

Genetic Counseling Satisfaction Scale (GCSS)¹²

The Genetic Counseling Satisfaction Scale (GCSS) is a 6-item, 5-point Likert scale used to assess patient satisfaction with genetic counseling.

6 items; self-administered questionnaire

English; adult women after genetic counseling

Perceived Compatibility with Current Clinical Practice

Implementing GeNomics In pracTicE (IGNITE) Preimplementation Provider Survey¹³

There are three items from the IGNITE Preimplementation Provider Survey that health-care providers can use to assess the compatibility and value of a genomic intervention at their clinical practice. Responses are based on a 5-point Likert scale ranging from strongly agree (5) to strongly disagree (1).

3 items; self-administered questionnaire

English; health-care providers

Program Evaluation: Patient Uptake of Genetic Services

Reach Effectiveness Adoption Implementation and Maintenance (RE-AIM) Checklist for Study or Intervention Planning⁴

The reach dimension of RE-AIM includes a 4-item checklist used to summarize the characteristics of patients who participate in the uptake of services. Genetic service programs or investigators are expected to report these details when describing patient uptake of genetic services.

4 items; program evaluation

English; health-care providers

Regret About Health-care Decisions

Decision Regret Scale¹⁴

The Decision Regret Scale is a 5-item Likert scale. Respondents read each statement and use the response options to indicate how much they agree or disagree with the statement. The scale numbers range from strongly agree (1) to strongly disagree (5).

5 items; self-administered questionnaire

English; adults with cancer or osteoporosis

Relative Advantage of a Genomic Medicine Intervention over Current Practice

Implementing GeNomics In pracTicE (IGNITE) Preimplementation Provider Survey¹⁵

There are two questions from the IGNITE Preimplementation Provider Survey that health-care providers can use to assess the relative advantage of a genomic intervention over their current practice. Responses are based on a 5-point Likert scale ranging from strongly agree (5) to strongly disagree (1).

2 items; self-administered questionnaire

English; health-care providers

Sharing Genomic Information with Relatives

Family Communication from the Clinical Sequencing Evidence-Generating Research (CSER) Adult Patient Measures—Post-Return of Results Follow-up #2 (5–7 months Post–Return of Results) and Electronic Medical Records and Genomics (eMERGE) Family Communication of Genetic Results⁸

This series of questions can be used to determine with whom (if anyone) the individual shared his or her genetic tests results and why it was important to share the results.

5 items; self-administered or interviewer-administered questionnaire

English; adults after genetic testing

Understanding of Health Implications of Genomics

KnowGene¹⁶

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. The KnowGene Scale includes health implications to oneself as well as relatives. This measure covers penetrance, actionability, limitations of current technology, and monogenic inheritance patterns.

16 items; self-administered questionnaire

English; adults after genetic testing

Supplemental Information^b

Adherence to Clinical Practice Guidelines for Genomic Medicine^b

Tier 1 Genomics Applications and Their Importance to Public Health¹⁷

The Centers for Disease Control and Prevention’s Office of Public Health Genomics developed a toolkit of genomic medicine resources for clinicians, public health professionals, public health agencies, advocates, and community leaders. The resources focus on the following tier 1 conditions: hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia.

Not applicable; guidelines

English; clinicians and public health professionals

Intention to Share Genomic Information with Relatives and Others^b

Implementing GeNomics In pracTicE (IGNITE) Patient Preimplementation Survey¹⁸

This question is used to determine with whom (if anyone) the individual plans to share his or her genetic tests results.

1 item; self-administered questionnaire

English; adults after genetic testing

Patient Empowerment After Genetic Services and Counseling^b

Genetic Counseling Outcome Scale (GCOS-24)¹⁹

The 24-item Genetic Counseling Outcome Scale (GCOS-24) focuses on empowerment. GCOS-24 includes a 7-point Likert scale ranging from how much the individual strongly disagrees (1) to strongly agrees (7) with the statement. GCOS-24 evaluates genetic counseling and testing services.

24 items; self-administered questionnaire

English; adults after genetic testing and genetic counseling