Indications for genetic referral: a guide for healthcare providers

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.

## 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and genetic technologies uncover new genes and genetic associations on a weekly basis, these lists will quickly become outdated.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 [fig_ref] Table 3: Genetic consultation may be helpful under the following circumstances for pediatric patients [/fig_ref]. A C M G P r a c t i c e G u i d e l i n e Genetics IN Genetic consultation may be helpful under the following circumstances for preconceptional or prenatal patients Prenatal or preconceptional patient who is or will be:
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## Finding
Reason to consider consultation Age 35 years or older at the time of delivery (for a singleton pregnancy) Discuss testing options for identifying an age-related chromosome anomaly
Age 33 years or older at the time of delivery (for a twin pregnancy) Discuss testing options for identifying an age-related chromosome anomaly
A close blood relative of her partner (consanguineous union) Review pedigree and assess degree of relatedness; discuss potential additional fetal risks and testing options before and/or after delivery

## Discuss additional testing strategies and inheritance
A personal history of stillbirths, previous child with hydrops, recurrent pregnancy losses (more than two), or a child with sudden infant death syndrome (SIDS)
Rule out a chromosomal, metabolic, or syndromic diagnosis that may be associated with an unexplained neonatal death or SIDS A progressive neurologic condition known to be genetically determined such as a peripheral neuropathy, unexplained myopathy, progressive ataxia, early onset dementia, or a familial movement disorder Discuss a potential diagnosis, the differential diagnosis, inheritance, and testing options A statin-induced myopathy Discuss a potential mitochondrial disorder, inheritance and testing options Either member of the couple with a family or personal history of: Failure to thrive Rule out a chromosomal, metabolic, or syndromic diagnosis, or genetic condition (e.g., IGF1R mutations) A known metabolic disorder or symptoms of a metabolic disorder such as intractable seizures, hepatosplenomegaly, acidosis, cyclic vomiting, persistent hypoglycemia, developmental regression, and unusual body odor
Diagnose an inborn error of metabolism; discuss treatment and management; provide genetic counseling Abnormal brain MRI findings such as leukodystrophy, periventricular calcifications, unidentified bright objects, or a malformation Rule out a chromosomal or syndromic diagnosis (e.g., neurofibromatosis, tuberous sclerosis); provide genetic counseling (e.g., some brain malformations such as Dandy-Walker malformation may be genetic)
An unusual growth pattern such as overgrowth, short stature, or hemihypertrophy
Rule out a chromosomal, syndromic, or metabolic diagnosis (e.g., Sotos syndrome, Beckwith-Wiedemann syndrome, Turner syndrome)
Evidence of a connective tissue disorder such as extreme joint laxity, poor wound healing, or a marfanoid habitus Autism or pervasive developmental disorder Rule out a chromosomal or syndromic diagnosis (e.g., fragile X, Angelman syndrome, Rett syndrome)
Unusual behaviors, especially when associated with minor malformations and developmental delay or mental retardation Rule out a chromosomal or syndromic diagnosis (e.g., Smith-Magenis syndrome, Lesch-Nyhan syndrome)
An immunodeficiency or significant immune problem Rule out a syndromic diagnosis (e.g., 22q deletion) or genetic form of immunodeficiency (e.g., severe combined immunodeficiency syndrome)
Progressive muscle weakness that might be associated with a genetic disorder such as a form of muscular dystrophy, spinal muscular atrophy, or myotonic dystrophy
Confirm suspected diagnosis and provide genetic counseling
Other neurologic condition that might be associated with a genetic predisposition such as a peripheral neuropathy, unexplained myopathy, progressive ataxia, or any progressive neurologic disorder without a clear, nongenetic cause
Rule out a genetic diagnosis (e.g., spinocerebellar ataxia, Huntington disease), provide genetic counseling
[table] Table 2: Genetic consultation may be helpful under the following circumstances for adult patients Personal history of:FindingReason to consider consultation Abnormal sexual maturation or delayed puberty Rule out an intersex condition, chromosomal abnormality or syndromic diagnosis (e.g., androgen insensitivity, Klinefelter syndrome) [/table]
[table] Table 3: Genetic consultation may be helpful under the following circumstances for pediatric patients [/table]