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Research, Quality and Outcomes Committee

Committee Overview

The 2022 Research, Quality, and Outcomes (RQO) Committee charges include:

  • Overseeing NSGC’s overall research strategy.
  • Serving as a resource for the NSGC research community.
  • Promoting research in underrepresented patient populations.
  • Managing the development, validation, and accessibility of quality metrics and patient-outcomes measures to demonstrate the value of genetic counselors and to evaluate the quality and effectiveness of genetic counseling interventions.
  • Enabling multi-site research efforts through development of a research consortium.

Access, quality, and cost are central priorities for this work. The Committee has several subgroups focusing on specific examples of value and patient-reported outcomes that will help lay the groundwork for a larger scale NSGC research infrastructure. These efforts will support several NSGC initiatives to promote increased access to genetic counselors, increase reimbursement for value-based clinical services, and facilitate outcome-based research that informs genetic counseling practice.

Given that genetic counseling research aims to provide evidence to inform best practices, overlap exists between patient-reported outcome measures and research outcomes. Investigators often select research outcomes based on a theoretical model that frames their research question. In contrast, patient reported outcome measures are generated from stakeholders to ensure they represent genetic counseling outcomes that patients value.

Research outcomes most often reported in the genetic counseling literature include genomic knowledge, psychological well-being, informed choice and health behaviors (Athens, et al., 2017). Patient-reported outcome measures usually directly relate to patient expectations and perceived benefits. Identifying synergies between assessment of patient value and practice outcomes is a priority for advancing the field.

Committee Webinar Links

January 2022 Research Curious? Tips and Tricks to Publish Your Student Project & other unpublished data Webinar Recording

September 2021 Research Curious? Tips and Strategies for Conducting a Research Study Webinar Recording 

June 2021 Research Curious? Research Design and Implementation: A Case Presentation and Discussion Webinar Recording

January 2021 Research Curious? Webinar Recording

January 2021 Webinar Testimonial Video

Definitions used in Patient-Outcomes Measurement

Patient-Reported Outcomes (PROs)

A PRO is a healthcare outcome that matters to patients. The National Quality Forum (NQF) defines PROs as “…any report of the status of a patient’s health condition that comes directly from the patient, without interpretation of the patient’s response by a clinician or anyone else.” PRO domains encompass:

  • health-related quality of life (including functional status)
  • symptom and symptom burden;
  • experience with care; and
  • health behaviors  

Patient-Reported Outcome Measures (PROMs)

PROMs are instruments that measure PROs and usually take the form of a patient questionnaire or scale. PROMs can be generic or disease-specific (Weldring & Smith, 2013). In genetic counseling, examples include the Genetic Counseling Outcome Scale, designed to measure empowerment (McAllister et al., 2011b), and the Perceived Personal Control questionnaire (Berkenstadt et al., 1999). A good quality PROM will have evidence of reliability, validity, responsiveness and interpretability (Mokkink, et al., 2010). PROMs can be administered before and after use of the service, enabling change-over-time to be measured.

Patient-Reported Experience Measures (PREMs)

Patient-reported experience measures (PREMs) capture patient satisfaction with a healthcare service (Weldring & Smith, 2013). In genetic counseling, examples include the Genetic Counseling Satisfaction Scale (Tercyak, et al., 2001) and the satisfaction scale developed by Zellerino, et al (2009). PREMS provide important insights into the patient experience of healthcare, but they do not give an indication of improvement in outcomes, as they are only administered after the service has been provided.

PRO-Based Performance Measures (PRO-PMs)

PRO-PMs incorporate data generated from PROMS, for the purpose of performance evaluation and accountability on an institutional and systemic level. PROMs data can be aggregated to generate PRO-PMs, which can be then used to compare the performance of different healthcare organizations.

For more information, download the Patient-Reported Outcomes in Performance Measurement

Genetic Counseling Quality Landscape Assessment

In 2020, the NSGC contracted with Discern Health, a healthcare consulting firm, to perform a landscape assessment of the genetic counseling profession and quality measures to help establish a roadmap for NSGC’s research and measure-development efforts. This collaboration identified evidence-based measurement opportunities applicable to genetic counseling models across settings and specialties, helped clarify opportunities and gaps in quality and outcome measurements, and informed pathways to demonstrate genetic counseling value. This work provided a strategic roadmap to prioritize measure development and identified new opportunities to engage in quality-improvement programs.

Landscape of measures related to genetic counseling

This list of measures is a result of a collaborative effort by the National Society of Genetic Counselors’ Research Quality and Outcomes Committee and Discern Health, a value-based healthcare policy consulting firm. The first tab includes a scan of existing quality measures, the source, type of measure (Outcome, Structure, Process), clinical area, where the measure maps to the genetic counseling care continuum, steward of the measure, data source and endorsement status. The second tab, labeled “PROMs” is a list of tools or measures with a link to the source.

These lists are not meant to be exhaustive, and will evolve over time. Please consider this a starting place as you consider measures for use in genetic counseling quality improvement or outcomes research. A link to this table will be included in a manuscript that we have submitted for publication about the process used to develop this list. A citation will be added if the manuscript is accepted for publication.

To access this list, click here.

For more information, contact Julia Wynn (wynn.julia@gmail.com).

Instrument Measures Development Efforts

The NSGC RQO Committee is charged with exploring measures that will assess patient-reported and research outcomes of genetic counseling and exploring options for formal endorsement of high-quality measures. The development of these measures has typically started in research environments with subsequent adoption into clinical practice. Measures are needed for both purposes and can, at times, be used in both research and clinical settings. The Committee has selected the following measures to further develop because they have already been utilized in research and have high potential as PROMs in clinical settings.

Current Committee efforts focus on the following three measures:

Shared Decision- Making (SDM)

The SDM measure is intended for patients to complete after a consultation with a healthcare practitioner. This measure has been endorsed by the NQF in several settings already. It is based on a four-item patient-reported survey that assesses the extent to which SDM happens in conversations between patients and healthcare practitioners. The items cover four core behaviors that are necessary for SDM: discussion of options, pros, cons, and patients’ preferences. The survey has been tested extensively in common medical decisions including cancer screening tests, medication decision-making, and surgical decision-making. There is strong evidence of reliability and validity, and differences of 0.3SD-0.5SD have been seen between sites that do vs. do not make an effort to implement SDM (i.e. through decision aids or coaching). More information on the SDM measure is available at: https://mghdecisionsciences.org/about-us/shared-decision-making/

Although there are many genetic counseling ‘decisions’ that could be studied, the Subcommittee is piloting a project through the Massachusetts General Hospital Cancer Center to study SDM in the context of the decision to proceed with hereditary cancer genetic testing. After the pilot phase, the Subcommittee plans to test the measure in other (e.g. prenatal, cardiogenetics) clinical settings.

For more information, contact Kristen Shannon (keshannon@mgh.harvard.edu).    

The Multi-Dimensional Model of Informed Choice (MMIC)

NSGC defines genetic counseling as a process of helping individuals understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. This process includes helping individuals make an informed choice. Yet, it is challenging to know when patients have made an informed choice, which is the outcome of a well-considered decision.

A self-report assessment would be subjective and likely to have a positive bias, as a person intends and hopes that he/she made an informed choice. An objective assessment that includes mastery of information that the decision maker (and practitioners) deems important and determines whether the decision is congruent with one’s values and beliefs is necessary (Marteau, et al., 2001). 

The MMIC assesses the relationship among three constructs: relevant knowledge, attitudes toward the decision target, and the decision outcome. Respondents with sufficient relevant knowledge who make a decision in accordance with their attitudes (determined by values and beliefs) have thus made informed choices.      

While developed as a research outcome of studies to enhance informed choice, the MMIC is likely to be a valid clinical-services outcome. The MMIC may also offer practitioner-level outcomes data to demonstrate genetic counselors' role in helping patients arrive at informed choices. The MMIC subgroup has prioritized prenatal (NIPT) decisions and cancer-testing decisions as areas to pilot the scale as a clinical outcome of genetic counseling. The RQO Committee will validate these scales in English and Spanish.     

Multi-Dimensional Model of Informed Choice (MMIC)​ References

For more information, contact Susan Christian (Susan.Christian@albertapubliclabs.ca).   

Genetic Counseling Outcomes Scale (GCOS)

The Genetic Counseling Outcome Scale (GCOS-24) is a PROM that captures empowerment, a construct summarizing how the patient benefits from genetic counseling (McAllister, et al., 2011). The GCOS-24 has good psychometric properties, with established reliability, internal consistency, responsiveness, and construct validity with no floor or ceiling effects observed (McAllister, et al., 2011).  

The Minimum Clinically Important Difference for the GCOS-24 has been established to be an increase in 10.3 points following genetic counseling (Thomas & McAllister, 2019). GCOS-24 was first used to evaluate five clinical genetics centers in the United Kingdom in 2012-2013. Each of these centers demonstrated statistically significant improvements in mean GCOS-24 scores after clinic attendance (McAllister, 2016).

 GCOS-24 has also evaluated a novel psychiatric genetic counseling service in Vancouver, Canada and a cancer genetics service in Singapore. Both settings observed statistically significant improvements in mean GCOS-24 scores after genetic counseling (Inglis, et al., 2015; Yuen, et al., 2020). GCOS-24 is useful for quality improvement in clinical genetics (Costal Tirado, et al., 2017).

Genetic Counseling Outcomes Scale (GCOS)​ References

For more information, contact Marion McAllister (McAllisterMF@cardiff.ac.uk). 

Patient-Engagement Subgroup

This Subcommittee is exploring quality measures that impact access to genetic counselors. This includes time, geography, and ease of getting an appointment. Health systems and health plans use patient-experience surveys to measure access, to demonstrate patient-centeredness, and to inform quality-improvement efforts.

Research indicates that better patient-care experiences are associated with higher levels of adherence to recommended prevention and treatment processes, better clinical outcomes, better patient safety within hospitals, and less healthcare utilization. There are demonstrated benefits to collecting patient-satisfaction data. Such data is important for genetic counselors. Over the next several years, the majority of Medicare payments will be tied, at least in part, to value-based payments.

Two possible surveys for further use or development include the Press Ganey Survey and The Clinician and Group Consumer Assessment of Healthcare Providers and Systems survey (referred to as the CG-CAHPS). The Press Ganey Survey is, a nationally administered, validated, and benchmarked patient-experience survey to which institutions subscribe. Institutions that contract with Press Ganey can customize the provider-specific section within the Medical Practice Survey to better reflect genetic counseling practice. Institutions without access to Press Ganey can use the CG-CAHPS to collect patient-reported data. Utilizing a nationally available patient-experience survey would enable genetic counselors to gather benchmarked data relative to patient-centered care.

For more information, contact Julia Wynn (jw2500@columbia.edu).    

Research Infrastructure Development

The RQO Committee is committed to addressing the NSGC memberships’ research needs and supporting NSGC’s research strategy that focuses on the quality of genetic counseling services and outcomes of genetic counseling interventions. To this end, the Committee will develop improved infrastructure, including a NSGC Research Consortium.  Ongoing Committee efforts will inform this infrastructure, such as the 2020 genetic counseling landscape assessment recommendations.

In developing an NSGC research infrastructure, it is important to harmonize research, clinical needs, and resources. While some quality or patient outcome measures may be suitable for both clinical and research settings, some measures primarily fit into one setting. Improving research networking and collaborative opportunities will allow for larger studies across settings and the use of consistent, informative data to increase the power and informative nature of NSGC’s research efforts.

Recommendations for Designing Genetic Counseling Research Studies    

A research question determines the outcomes of a study. If the question focuses on whether participants valued the care that they received, researchers would use a quality PROM as the outcome. If the researcher is conducting a study on genetic counseling service delivery or the type of genomic information returned, the outcome will likely relate to understanding (knowledge), psychological well-being (such as, test-related distress or decisional regret), or clinical outcomes (such as uptake of recommended healthcare or notification of relatives of hereditary risk). 

These types of quantitative research studies benefit from a theoretical framework from health psychology and/or health behaviour research that frames the relationship among the variables. Qualitative methods assess a new concept or patient experience not previously described. Researchers code and analyze the literal findings to generate hypotheses that subsequent quantitative studies to assess generalizability or representativeness can answer. Some studies use mixed methods and combine the approaches, using the qualitative findings to inform the quantitative data.   

Tips for Planning and Conducting an Outcomes-Related Research Study        

  • Identify a research gap where you can extend what is known or answer a novel question.
  • Conduct a thorough literature search so that you know what has already been published in the area of your research question.
  • When designing your study, consider whether you will test a hypothesis (quantitative study) or describe a novel phenomenon (qualitative study).
  • If you conduct a quantitative study, review existing theories that may be used to frame your study and help you identify key variables.
  • If you conduct a qualitative study, use the literature to inform your questions/observations.
  • Collaborate with colleagues you enjoy and have fun!

A full list of outcome-related references can be viewed here.

Research SIG Resources

The Research SIG developed this educational resource and has given permission to share this resource with the NSGC membership broadly. The purpose of this document is to provide genetic counselors direction in developing their research skills, particularly in regards to data analysis. In this document you will find links to websites, videos, articles, and other documents submitted by NSGC members for this tool. 

Disclaimer: Please note that these resoures were compiled by volunteers and were not created by NSGC. Sharing these resources does not constitute endorsement of the information provided. The resources have not been fully vetted for content.

Committee Leadership – 2022   

  • Chair: Julia Wynn
  • Vice Chair: Emily Higgs

Members

  • Amy Wardyn
  • Ashley Cannon
  • Chenery Lowe
  • Chloe Reuter
  • Cindy James
  • Colleen Caleshu
  • Deanna Erwin
  • Jessica Fairey
  • Karen Wain
  • Kennedy Borle
  • Kristen Hanson
  • Laiken Peterson
  • Laura Amendola
  • Melanie Hardy
  • Miranda Hallquist
  • Molly McGinniss
  • Rachel Gore
  • Sarah Kalia
  • Susan Christian

Ad-Hoc Participants

  • Kristen Shannon
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