Indications for genetic referral: a guide for healthcare providers

Abstract

Disclaimer: This guideline is designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline.

Main

Geneticists and genetic counselors are often asked what may be appropriate reasons for referral to a genetics service. The Professional Practice and Guidelines Committee of the American College of Medical Genetics has generated lists of the more common reasons for referral and provide them for use by genetics professionals and other healthcare providers for guidance. The lists are divided into pediatric, prenatal, and adult indications.

As genetic health professionals, we are frequently asked under what clinical circumstances a genetic consultation is warranted. Although there is a vast array of indications for referral, here are a number of common indications for a genetic office visit. These lists have been divided into pediatric, preconceptional/prenatal, and adult categories for simplicity's sake; findings are paired with consultation objectives. These lists are clearly not intended to be exhaustive or comprehensive, but will hopefully serve as a guide for primary care providers who may have questions about specific clinical circumstances. As the field of genetics expands and genetic technologies uncover new genes and genetic associations on a weekly basis, these lists will quickly become outdated. However, for now, these may help to provide a framework for patient centered specialty referrals (Tables 1–3).

Table 1 Genetic consultation may be helpful under the following circumstances for preconceptional or prenatal patients

Table 3 Genetic consultation may be helpful under the following circumstances for pediatric patients

Table 2 Genetic consultation may be helpful under the following circumstances for adult patients