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C 2003) Journal of Genetic Counseling, Vol. 12, No. 4, August 2003 (°

Developing Standard Recommendations (Guidelines) for Genetic Counseling Practice: A Process of the National Society of Genetic Counselors Robin L. Bennett,1,5 Barbara J. Pettersen,2 Kristin B. Niendorf,3 and Rebecca Rae Anderson4

The National Society of Genetic Counselors (NSGC) supports the development of practice recommendations (guidelines) in the field of genetic counseling. This paper reviews the basic components of NSGC genetic counseling practice recommendations as well as the process for formal adoption of such documents, as approved by the Board of Directors of the NSGC. KEY WORDS: genetic counseling; National Society of Genetic Counselors; practice guidelines.

INTRODUCTION Genetic counseling practice recommendations of the National Society of Genetic Counselors (NSGC) are meant to assist practitioners in making decisions about appropriate management of genetic concerns. Each practice recommendation focuses on a clinical or practice issue, and is based on a review and analysis of the professional literature. The information and recommendations reflect scientific and clinical knowledge current as of the publication date, and are subject to change as advances in diagnostic techniques, treatments, and psychosocial understanding emerge. In addition, variations in practice, taking into account the needs of the individual patient and the resources and limitations unique to the institution or type 1 Medical

Genetics, Department of Medicine, University of Washington, Seattle, Washington. Services Committee, National Society of Genetic Counselors, Wallingford, Pennsylvania. 3 Center for Cancer Risk Analysis, Massachusetts General Hospital, Boston, Massachusetts. 4 Preventive & Societal Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska. 5 Correspondence should be directed to Robin L. Bennett, MS, CGC, Medical Genetics, University of Washington, Box 357720, Seattle, Washington 98195-7720; e-mail: [email protected]. 2 Genetic

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of practice, may warrant alternative approaches, treatments, or procedures to the recommendations outlined. NSGC genetic counseling practice recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. Genetic counseling practice recommendations are not intended to supersede a health care provider’s best medical judgment. The listing of patient and professional resources in each document does not necessarily imply NSGC endorsement. What Constitutes a Genetic Counseling Practice Recommendation? The NSGC employs the definition of clinical practice guidelines adopted by the Institute of Medicine (1990; www.ngc.gov): Clinical practice guidelines are systematically developed statements to assist practitioners and patient decisions about appropriate health care for specific clinical circumstances.

Recommendations of the NSGC for Genetic Counseling Practice conform to the criteria for inclusion in the National Guidelines Clearinghouse or NGC (www.ngc.gov). These include: 1. Clinical practice guidelines containing systematically developed statements including recommendations, strategies, or information that assists physicians and other health care practitioners and patients to make decisions about appropriate health care for specific clinical circumstances. 2. The practice recommendations are produced under the auspices of a relevant professional society. 3. Documentation can be produced that verifies that a systematic literature search and review of existing scientific evidence published in peer reviewed journals was performed during the development of the practice recommendation. 4. The guideline is in English, and the most recent version produced, and the document has been produced or verified/revised within the last 5 years. The Agency for Healthcare Research and Quality (AHRQ) in partnership with the American Medical Association (AMA) and the American Association of Health Plans (AAHP) oversees the NGC database. Why Develop Genetic Counseling Practice Recommendations? Systematically developed genetic counseling practice recommendations are expected to advance a number of important goals including: • assisting clinical decision making • educating individuals and groups

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assessing and assuring quality of care increasing the consistency of patient care guiding allocation of resources reducing the chance of negligent care THE DEVELOPMENT OF NSGC GENETIC COUNSELING PRACTICE RECOMMENDATIONS The Process for Developing NSGC Genetic Counseling Practice Recommendations

The protocol for developing genetic counseling practice recommendations was formulated by the NSGC Genetic Services Committee and approved by the NSGC Board of Directors in June 2000, with minor revisions in 2002 (Figs. 1 and 2). In developing this process, the NSGC considered the attributes of clinical practice guidelines as outlined by the Institute of Medicine (1990). These include: • • • • • • • •

validity reliability and reproducibility clinical applicability clinical flexibility clarity multidisciplinary process scheduled review documentation

The NSGC also considered the methods of developing genetics practice guidelines outlined by other professional organizations (Anderson, 1996) and related groups such as the American College of Medical Genetics (www.acmg.net ) and the Genetic Services Section of the Washington State Department of Health (Marymee et al., 1998).

Choosing an Authoring Group The protocol contemplates a core authoring group consisting of genetic counselors with expertise in the relevant topical areas. This core group identifies other health care providers whose collaboration is desirable in the development of the practice recommendations, and the authoring group actively recruits patient/consumer involvement. For example, one of the authors of the Fabry disease genetic counseling recommendations (Bennett et al., 2002a) is the founder of a Fabry disease lay-advocacy group.

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Fig. 1. Genetic counseling practice recommendations checklist.

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Fig. 1. Continued

Literature Review A thorough literature review is conducted emphasizing outcome-based practice analysis, empirical support, consensus statements, recommendations of recognized authorities, and cost–benefit assessments. The published practice recommendations include the time period of literature review, as well as key words used in the literature search. Evaluation and classification of the literature is based on categories outlined by the U.S. Preventive Services Task Force (1995): I. Evidence obtained from at least one properly designed randomized controlled trial. II-1. Evidence obtained from at least one well-designed controlled trial without randomization. II-2. Evidence obtained from well-designed cohort or case-control analytic studies, preferably from more than one center or research group.

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II-3. Evidence obtained from multiple time series, with or without the intervention. III. The opinions of respected authorities, based on clinical experience, descriptive studies, or reports of expert committees. Reflecting the paucity of evidenced-based literature, the NSGC practice recommendations to date have all been U.S. Preventive Task Force Class III, as they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees (Bennett et al., 1995, 2002a,b; McIntosh et al., 2000).

Fig. 2. Approval process: NSGC genetic counseling practice recommendations.

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Draft Review The consensus method as outlined in Figs. 1 and 2 includes authors from more than one institution, two or more external reviewers including at least one medical geneticist, and at least two consumer reviewers. If more than one approach to a topic exists, all sides are discussed. An open request for review of the draft recommendation is posted on the NSGC listserv by the authors and/or the NSGC Genetic Services Committee Chair. Over 70% of the NSGC membership subscribe to the NSGC listserv. This proves to be an extremely valuable method of peer review as both experts in the topic and individuals with little experience in the field review the document. Additionally, as part of the draft preparation process, related organizations are contacted in an effort to invite comment and joint recommendation development. Upon completion of the substantive drafting process, the NSGC Ethics subcommittee and the NSGC attorney screen the document for potential legal difficulties or possible conflicts with the NSGC Code of Ethics (1992).

Adoption The revised draft is then presented to the NSGC Board of Directors by the lead committee chair or another representative. Adoption requires a majority Board vote. If the document is not adopted, it is sent back to the authoring subcommittee with comments for revision or project termination. All documents are published in appropriate media sources.

Suggestions for Developing Genetic Counseling Practice Recommendations NSGC practice recommendations reflect the minimum genetic counseling components of a specific genetic condition or topic, and language used in the document should reflect this. For example, when discussing patient follow-up, the statement, “A letter to the consultand that includes a summary of major topics discussed in the genetic counseling session is helpful” is preferable to the directive, “Send the consultand a follow-up letter.” While it is tempting to include a detailed summary of the natural history and medical management of a specific genetic topic, these components should be kept to a minimum to limit the length of the paper. Providing this information in table format can be a useful approach (Bennett et al., 2002a). Patient and professional resource information is an important component of the document. Care should be taken to include only national and international groups. Although many clinical groups have excellent materials on their websites, in general these websites are not included in NSGC practice recommendations as this may appear as an endorsement of a particular clinical practice. Often the

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Bennett, Pettersen, Niendorf, and Anderson Table I. Genetic Counseling Practice Recommendations Developed and Adopted by the National Society of Genetic Counselors Practice recommendation

Approved by NSGC

Pedigree nomenclature Fragile X Syndrome Consanguinity Fabry disease

October 1994a October 1999 May 2001 August 2001

Reference 1995 Bennett et al., 1995 McIntosh et al., 2000 Bennett et al., 2002b Bennett et al., 2002a

a Developed

through NSGC committee with outside comment and NSGC Board approval prior to the adoption of the NSGC approval process for developing practice recommendations.

national or international patient advocacy groups have links to such sites from their websites. CONCLUSIONS The genetic counseling practice recommendations of the NSGC reflect a general consensus of the minimum genetic counseling components of a specific genetic condition or topic. Recommendations focus on specific genetic counseling aspects rather than medical management, although medical management issues may be discussed in the context of genetic counseling. When multiple clinical approaches are in use, all alternatives are discussed. The practice recommendations are supported by references with an emphasis on consensus statements, empiric support, outcome-based practice analysis, and cost–benefit assessments. To date three genetic counseling practice recommendations have been formally adopted by the NSGC (Table I), and they have all been accepted as practice guidelines by the National Guidelines Clearinghouse (www.ngc.gov ). REFERENCES Anderson, R. (1996). National guidelines for genetic counselors: The drafting of practice guidelines by the National Society of Genetic Counselors. In S. B. Freeman, C. F. Hinton , L. J. Elsas (Eds.), Genetic services: Developing guidelines for the public’s health. National and Maternal and Child Health Bureau. Bennett, R. L., Hart, K. A., O’Rourke, E., Barranger, J. A., Johnson, J., MacDermot, K. D., et al. (2002a). Fabry disease in genetic counseling practice: Recommendations of the National Society of Genetic Counselors. J Genet Couns, 11, 121–146. Bennett, R. L., Motulsky, A. G., Bittles, A., Hudgins, L., Uhrich, S., Doyle, D. L., et al. (2002b). Genetic counseling and screening of consanguineous couples and their offspring: Recommendations of the National Society of Genetic Counselors, J Genet Couns, 11, 97–119. Bennett, R. L., Steinhaus, K. A., Uhrich, S. B., O’Sullivan, C. K., Resta, R. G., Doyle, D. L., et al. (1995). Recommendations for standardized human pedigree nomenclature. Am J Hum Genet, 56, 745–752. Institute of Medicine. (1990). Clinical practice guidelines: Directions for a new program (p. 38). Washington, DC: National Academy Press.

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Marymee, K., Dolan, C. R., Pagon, R. A., Bennett, R. L., Coe, S., & Fisher N. L. (1998). Development of critical elements of genetic evaluation and genetic counseling for genetic professionals and perinatologists in Washington State. J Genet Couns, 7, 133–165. McIntosh, N., Gane, L. W., McConkie-Rosell, A., & Bennett, R. L. (2000). Genetic counseling for Fragile X syndrome: Recommendations of the National Society of Genetic Counselors. J Genet Couns, 9, 303–325. U.S. Preventive Services Task Force. (1995). Guide to clinical preventive services, (2nd ed., Appendix A). U.S. Government Printing Office, Stock No 90700105158.

Developing Standard Recommendations (Guidelines) for Genetic Counseling Practice: A Process of the National Society of Genetic Counselors.

The National Society of Genetic Counselors (NSGC) supports the development of practice recommendations (guidelines) in the field of genetic counseling...
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