On January 30, 2006, the Access to Credible Genetics Resources Network (ATCG) convened a meeting to examine the concept of evidence-based information for single gene disorders. The 30 participants also considered core competencies and best practices for healthcare providers.

These participants are part of the National Advisory Council for ATCG, a cooperative agreement focused on Duchenne/Becker muscular dystrophy and fragile X syndrome, funded by the Centers for Disease Control and Prevention. Genetic Alliance, a coalition of over 600 disease-specific advocacy organizations serving over 14 million people with common and rare genetic conditions, received the award. Their major partners include: Parent Project Muscular Dystrophy (Patricia Furlong), FRAXA (Katie Clapp, MS), University of Maryland School of Medicine (Miriam Blitzer, PhD and Carol Greene, MD), National Coalition for Health Professional Education in Genetics (Joseph McInerney, MS) and GeneTests/GeneClinics (Roberta Pagon, MD).

Sharon Terry, MA, President and CEO of Genetic Alliance, principal investigator, led the meeting. The National Advisory Committee was introduced to the project, the concept of evidence-based information, and the attributes of core competencies. The participants spent time in plenary sessions and breakout groups designed to elicit their expertise. Our goal in gathering these experts was not to resolve or solve issues, but instead to garner the wisdom of this experienced body, to inform our first steps.

Objectives of the project include:

Methodology
ATCG will employ these methods:

Audience

The information assessments conducted by this project will consider affected, or potentially affected, individuals and the surrounding community: their families and providers—physicians, nurses, genetic counselors, physician assistants, physical therapists, occupational therapists, educators, medical directors of health plans, etc. The definition of evidence-based information and the information based on this definition will serve a broad community; our premise is that evidence-based and appropriate information will also be useful for family members, health providers, and educators. The vast majority of healthcare providers are not experts in genetics, and information designed for consumers will help educate them.

Principles

We have proposed these tentative principles (subject to revision):

Evidence-based Information differences between three resources that differ greatly on the incidence of brain malformation in newborns with a particular diagnosis. Dr. Greene described the Agency for Healthcare Research and Quality’s (AHRQ) scoring system for evidence-based medicine: (see box).
Information for most single gene disorders will not meet the requirements of A or B. She suggested that if we decide to use the AHRQ system, we would need to modify it because of the very different environment for rare diseases.

Much of the basis for evidence-based medicine constitutes formal information, critical to the definition of evidence. When considering information, however, it might be important to integrate less formal information and patient-based information. In gathering accurate information, one concern is how to capture negative results, and “no findings” results, since they are generally not published. It is difficult to assess the reliability of information, and it is possible that information on single-gene disorders will be accurate but inadequate. It will be helpful to look at models from other disciplines.

Similar to considerations about evidence-based medicine, information should be carefully examined and reevaluated as the field advances. Factors to consider when reviewing information include the source, methods, size of the group, the study’s publication date, the inherent uncertainty, and the characteristics of the cohort, that is, who is and is not included.

A basic background is critical for consumers and providers because many general misconceptions make information about genetic conditions difficult to understand. In the case of single gene disorders, these misconceptions are compounded by the lack of adequate information. Tools such as the AHRQ scoring system and the matrix designed for the Secretary’s Advisory Committee on Genetic Testing several years ago may be useful as we try to quantify evidence-based information.

In the breakout session for evidence-based information, participants discussed the importance of working with advocacy organizations to help determine the attributes of quality information. Different standards will be in place for various types of information, and they must be regularly reassessed because information will change rapidly, becoming outdated or incorrect. Participants determined these areas to characterize: diagnosis, treatment/management, natural history/description, research, and genetics.

Because a number of partners from many disciplines will be developing and disseminating the information, the NAC recommended that advocacy organizations are an ideal staging ground; such organizations encourage participation of all disciplines in their disease-specific and support work. Therefore, although some participants expressed concern that many experts might be involved, we resolved that this is a benefit because multispecialty/multidisciplinary approaches are critical in all genetic conditions.

It is important to build standard methods that are applicable to all conditions. We will be careful to keep the bar for evidence-based information as high as possible, also encouraging the research bar to be raised, but planning the immediate use of all available evidence-based information. It will be important to examine how the system we forge will fit into existing clinical systems. We will use Duchenne/Becker muscular dystrophy (DBMD) to apply and test the models we develop for the evaluation and dissemination of high-quality information. In addition, the project will develop material for fragile X syndrome using the methods developed to disseminate to healthcare providers.

Although the system we create will integrate feedback and iteratively increase in sensitivity and utility, experts will still be a key component.

Methods that these experts use to communicate their expertise include: peer-reviewed articles, advocacy organizations’ conferences and published information, and consensus conferences.

It is essential that advocacy organizations and the broader community choose experts in a thoughtful way and avoid, as one participant cautioned, individuals selling “snake oil.” There was a good deal of discussion about whether there is a conflict of interest in using researchers and clinicians who have a stake in the disease as advisors and experts. One advocacy organization reported using all non-disease-specific advisors. It will be important to define attributes of good and effective experts.

Some participants suggested rating advocacy organizations if they are to be the central producers and repositories of information for single gene disorders. However, like providers and laboratories, advocacy organizations will respond better to working toward a set of standards, rather than being rated externally. Nevertheless, standards, core competencies, and best practices for advocacy organizations are also important. Parents can be a wonderful, credible voice to other parents; but in some instances, they may not relay information accurately. Genetic Alliance is building capacity in advocacy organizations and will bring all advocacy organizations along as this project progresses.

The amount of information available about single-gene disorders has increased as a result of increased research and accessibility to the Internet. There appear to be two types of people: those who get and vet information on their own and those who put themselves in the hands of the doctors and clinicians. Therefore, it is important to put high-quality information in the hands of both consumers and physicians. The key issues that emerged from this session were: How do you choose who experts are? and Who is going to apply the criteria that this project creates?

The large group reconvened and reviewed the thorny issues raised in each of the small groups:

From these topics, the group selected two for further evaluation: How do we define an expert or source of credible information? and What are the core endpoints?

The session that evaluated the question, “How do you define an expert?” generated lively discussion. The participants agreed that an expert is someone who has made a commitment to keep up with the literature in a field.

Participants agreed that it will be important to be transparent in deciding who gets to decide - ‘experts’ evaluating and characterizing information for a condition. Some important questions raised were: Can caregivers be experts on day-to-day living or can only parents and individuals with the condition? and Does having access to information make you an expert? During the meeting, parent advocates thought that caregivers can certainly be experts in lifestyle issues, but the professionals thought that they could not be as expert as the parents. Everyone attending agreed that just having information does not an expert make.

This project will not grant imprimaturs to creators of information on single gene disorders, rather it will produce a tool that will allow users to judge the quality of a resource for themselves. To do this, we need an open dialogue on existing resources—a place where individuals can comment in a public and accessible manner. Experts for this project will be the advocacy organizations’ leaders and the steering committee, with the voluntary participation of the National Advisory committee. The best test of the tool is to examine existing materials.

Core Competencies

Joseph McInerney, the executive director of NCHPEG, will lead the development of core competencies for evidence-based information for single gene disorders. In his introductory presentation, he focused on improving patient outcomes as the endpoint for core competencies.

Core competencies not only should provide individuals information about single gene disorders, but also support the understanding and integration of that information into their decision-making. We determined that the term “core competency” appears to put the burden on the family, and “toolkit” might be a better term to use. The basis of the project is a frame of mind: It is important to learn together, address challenges, know one’s limits, and keep an open mind. Because individuals and families want to access information as quickly as possible, they often skip warnings or “required” readings; therefore, information should be presented in multiple forms so that it will be noticed.

The toolkit should reinforce the idea that we—providers and patients—are in this together. A second layer, analyzing the quality within those competencies, should be embedded in the toolkit. To support familial involvement in the management of single-gene disorders, the content and presentation of the information is important. Individuals may feel overwhelmed if they receive too much information. To address this, we will keep information very basic, conveying only four or five key items, at a third- to eighth-grade level. Furthermore, we will keep the information relevant for families looking for information about how to deal with everyday life. By presenting the information in a sequential order, individuals may be better able to understand the basic facts and move on to best practices. Time, accessibility, and format (web-based vs. other) also need to be considered with respect to the utility of information. By incorporating these issues into the toolkit, we will be able to provide a good starting point for creating educational materials.

Some participants worked together in a breakout session to develop the basic structure of a toolkit that could be generalized across single-gene disorders, beginnning with DBMD and FXS. This simple document needs to include core concepts that are applicable to a broad array of single-gene disorders, a set of disease-specific competencies, a framework for presenting information, and a method for articulating that framework. The document must be rooted in sound science and clinical practice and be useful to the end-users. Furthermore, we must include mechanisms that can be used to update the document as information evolves. The core competencies should be applicable to health professionals and families and be responsive to further subdivision for specific audiences. We envision that these competencies will be used by patients to educate themselves, their providers, and individuals developing educational materials. Given these different endpoints, a better term for core competencies is "essential toolbox."

The best way to accomplish this task is to start at the outcome, then articulate the competencies one needs to reach it. The group agreed that the critical endpoint is that patients have the information necessary to make informed decisions.

The participants agreed that the best structure for this project was to use the terms know, appreciate, and do embedded into a framework consisting of science content, medical aspects, behavioral aspects, and lifestyle issues.

The core competencies should address some important commonalities among single-gene disorders. One is the difficulty in identifying providers proficient in single-gene disorders. In addition, financial implications are a concern in every phase and must be dealt with effectively for individuals to have the resources they need. Also general issues will vary between disorders, including the validity and utility of knowledge within each topic. Family stories will help illustrate those differences. In addition, we must not forget individuals who have not been diagnosed. The thorny issues that emerged from these sessions were:

When the breakout group reported to the whole group, all concurred that the focus should be on the endpoint and all else will follow.

Reconvening in the breakout, the participants decided to organize the competencies into these basic areas: science, medical/clinical aspects, behavioral (cognitive, psychosocial, emotional) aspects, and lifestyle.

Participants also agreed that the endpoint should be tools to promote informed decisions, the core of the toolkit contains content that is applicable to a broad range of single-gene disorders, and there is a sliding scale of certainty of knowledge among disorders. Throughout all of it, one must consider finances and cultural competence.

Content/Science

Medical/Clinical:

Behavioral:

Lifestyle:

At the conclusion of the meeting, the steering committee members felt that the NAC had greatly furthered its understanding of the tasks of the project. All participants felt that the meeting was enormously helpful, had a better sense of the project, and were excited about having ways to measure information for credibility and quality. There was a consensus that it is best to focus this project on advocacy organizations. In addition, participants cautioned us that even though we may get bogged down in issues, we should try not to bog the process down. It would be better to put out iterative solutions than wait for complete answers.