Many primary care providers (PCPs) agree that genetic and genomic medicine should be included in their patient care repertoire. However, current systems do not adequately support this integration. The American College of Medical Genetics (ACMG) Practice Guidelines provide some guidance on the role of the referring provider and PCP in caring for an individual who has, or is suspected to have, a genetic condition. Each patient, condition and referring provider is unique; the needs and roles will vary greatly for each patient and their family and over the patient’s lifespan.
ACMG Practice Guidelines: Schaefer et al, 2013, Vol 15, No 5, 399-407.
The referring professional should discuss expectations and possible outcomes of such an evaluation before making the referral. The referring professional should be aware of what is involved in such a consultation and the potential diagnostic yields and should share this information with the patient/family.
Long term care and management is achieved through partnership with the PCP (medical home), other specialist(s), family and geneticist.
Genetic specialists are available for support