EasyPI: Rare Diseases
Welcome to the rare diseases in family medicine track page. Rare diseases are conditions that affect fewer than 200,000 Americans. There are more than 7,000 rare diseases that cumulatively affect over 30 million Americans.
As family physicians we have many patients with rare diseases, both diagnosed and undiagnosed. Some of these diseases are inherited, so many of us have family clusters of rare diseases in our practices. The purpose of this track is to provide a framework to do performance improvement (PI) work around these rare diseases.
This track includes a good deal of general information and some information on some specific rare disease states. You are welcome to choose any rare disease or group of rare diseases. You will need to find your own disease state information and develop appropriate measures, but this track will provide you with support in the implementation process and assist you in getting the American Board of Family Medicine (ABFM) PI and continuing medical education (CME) credits you deserve.
As a new initiative for the Ohio Academy of Family Physicians (OAFP), we would love your feedback on your current comfort in completing a PI activity for ABFM credit. In order to gauge effectiveness of this new tool, EasyPI, please take a few moments to share initial feedback before diving in by completing a quick survey.
And, once you’ve reviewed the content and/or submitted a project for credit, please let us know how it went by completing the post-survey.
Let’s Get Started!
- As needed, review the background information and guidelines for care of patients with rare diseases.
- Determine what factor in the care of rare diseases you want to address – you may already know the gaps in care, may have identified changes in guidelines that need to be implemented, may identify gaps by doing process mapping, or may use your Electronic Health Record to review data to find opportunities for improvement.
- Review the Performance Improvement Process Materials, complete the process mapping, determine your quality measures and interventions, and create a quality improvement plan.
- Collect preliminary data.
- Implement your change. Note: you will select the length of the PI activity (at least seven (7) days, but not more than 12 months).
- Collect post-intervention data.
- Submit your project for ABFM credit. See the ABFM Performance Improvement Activity section for detailed directions.
The resources provided below can be used prior to and during your PI project. Choose the resources you need most. You don’t have to click on every link included. There are a variety of options to match where you might be in your quality journey. There’s something for everyone, no matter if this is your first PI activity or 30th!
Resources with 
indicate there may be additional CME credit available upon completion.
Resources with 
indicate materials that include tools, education, support, etc. on health equity topics to consider.
Background Information
Utilize all or some of these resources to get you ready for your project.
Overview
- Rare Diseases FAQ (National Human Genome Research Institute)
- Zebras on the Commons: Rare Conditions in Family Practice (Journal of the American Board of Family Medicine)
- Rare Diseases Hub (Elsevier)
- Genetic and Rare Diseases Information Center (National Institutes of Health {NIH})
- Understanding Rare Diseases (National Organization for Rare Disorders)
Diagnosis/Treatment
- When to Suspect a Genetic Syndrome (American Family Physician)
- Barriers to Rare Disease Diagnosis Care and Treatment in the U.S. (National Organization for Rare Disorders {NORD})
- A Quick Reference Guide for Rare Disease: Supporting Rare Disease Management in General Practice (NORD)
- Rare Diseases: Although Limited, Available Evidence Suggests Medical and Other Costs Can Be Substantial (U.S. Government Accountability Office)
Referral
- National Organization for Rare Disorders Rare Disease Centers of Excellence (NORD)
- Search for an Expert Centre (Orphanet)
Health Equity
- Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges (NIH)
- Rare Disease Through the Ethics and Equity Lens (National Press Foundation)
Specific Rare Diseases
- Alpha-1-Antitrypsin Deficiency
- Gilbert Syndrome
- Idiopathic Pulmonary Fibrosis
- Marfan Syndrome
- Muscular Dystrophy
- Neurofibromatosis
- Pernicious Anemia
- Polycystic Kidney Disease
- Rare Coagulation Disorders
Guidelines
Point of Care Tools/Clinical Decision Support
Resources for Patients
Performance Improvement Process Materials
- Improve patient outcomes and help meet quality metrics
- Achieve team-based practice change
- Make practices more efficient
- Boost team morale
- Improve revenue.
These materials will guide you through identifying areas for improvement, understanding and using data, planning and making changes, and tracking performance over time.
- Quality Improvement Essentials Toolkit (Institute for Healthcare Improvement)
- Quality and Safety Topic Collection (Family Practice Management)
- Quality Measures (AAFP)
Quality Measures & Intervention Selection
Process Mapping
Workflow & process mapping creates a visual map of the steps your practice is currently using for a specific patient care or administrative task.
Benefits of process mapping include allowing the entire team to visualize and appreciate what role/contribution they and their colleagues play in the care of patients; gives an overview of the current processes that allows the team to plan for change; identifies unintended variations in care, inefficient procedures, and opportunities to involve other team members in care; improves communication between team members; gives team members increased ownership in patient care; and can increase employee job satisfaction.
View an outline of the mapping process and the following instructional video on the process:
Data Collection
Health Equity/Population Health Resource
ABFM Performance Improvement Activity
Now that you’ve collected data, implemented change, and have your outcomes, it’s time to submit your project for credit! Family physicians will use the ABFM’s Self-Directed Clinical Performance Improvement (PI) Project pathway to do so.
This pathway allows you to report customized improvement projects, regardless of the scope of care delivered. This pathway can be used to satisfy your PI requirement for continuing certification.
- You may report a project conducted alone or within a single practice group, an ACO, or other larger group practices
- You can use this pathway whether you see patients in a continuity setting or if you are providing non-continuity episodic care (e.g., hospitalist, telemedicine, locums, urgent care, emergency department, etc.).
Log into your MyABFM Portfolio to access this PI activity. To help you through the process of applying for credit, here is a sample application to review and ensure you have all of the information you will need, and below is video guide that walks you through each step.
Once you’ve submitted your application and it has been approved (may take up to 10 days for approval), you will fulfill an ABFM certification requirement and you will have earned 20 ABFM points and 20 American Academy of Family Physicians Prescribed CME credits.
We’d love to hear how this process was for you and what impact you had on patient care by completing your PI activity. Let us know in a post-survey.
If you have any questions regarding your PI activity requirement for the ABFM or if you have any issues with your application, please contact Ann Williamson at the ABFM. You can also visit the OAFP’s ABFM Certification webpage for more information on all things ABFM!
Questions
If you have any questions regarding materials on this page or the PI process in general, please contact Deputy Executive Vice President Kaitlin McGuffie or call 800.742.7327.
Sponsor
Funding support for this EasyPI track was provided by Boehringer Ingelheim Pharmaceuticals, Inc., a proud Partner in Health of the OAFP.