Resources
Guidelines and Consensus Statements
The Care Team
Medical Geneticist
Assessment
- Initial diagnosis
- Screening for comorbidities
Management
- Development of treatment plan
- Maintenance/follow-up/treatment adjustment as needed
- Consults specialists as needed
- Provides patient/caregiver education
Primary Care Providers
Internists, Pediatrician, Family Practitioner
Assessment
- Initial screening
- Screening for comorbidities
Management
- Provides preventive care (eg, annual wellness examination)
- Consults specialists as needed
- Provides patient/caregiver education
Specialists
Anesthesiologist; Cardiologist; Ear, Nose, and Throat Specialist; Gastroenterologist; Immunologist; Intensivists; Neurologist; Orthopedist; Pulmonologist; Urologist
Assessment
- Screening for and identification of comorbidities
Management
- Development of management plan
- Maintenance/follow-up/management plan adjustment as needed
- Provides patient/caregiver education
Patient/Caregiver
Assessment
- Reports symptoms
- Reports any changes to quality of life, ability to perform daily tasks, and/or engage in social activities
- Reports response to treatment
- Reports adherence to management strategies (eg, exercise, nutrition, etc)
Management
- The patient and any caregivers, including family members, friends, and advocates, are the center of the team
- Works closely with the team to derive a plan and suggest adjustments over time
- Active participation plan discussions
- Implements management strategies daily
Physical, Speech, Respiratory, and Occupational Therapists
Assessment
- Functional assessments
Management
- Development of exercise plan
- Maintenance/follow-up/exercise plan adjustment as needed
- Provides patient/caregiver education
Genetic Counselor
Assessment
- Genetic variant assessment based on current American College of Medical Genetics and Genomics criteria
- Counsels patients and family members on the potential effects of genetic conditions
Management
- Provides patient/caregiver education
- Guides family planning and testing of other family members
Dietician
Assessment
- Assess nutritional status
- Reviews dietary requirements
Management
- Reviews adherence to diet
- Evaluates gastrointestinal, chewing, or swallowing problems/concerns
- Determines parenteral nutrition requirements when needed