• Genetic risk assessment and testing can be helpful in aiding in the care of individuals with a personal or family history of genetic conditions.
• Some genetic conditions are inherited through either males or females, while others can be inherited through both males and females.
• Those with an unknown or limited family history can still be referred to genetics for evaluation.
• Genetic test results can:
  • Impact treatment and management recommendations
  • Inform unaffected individuals of possible future risks to themselves or future children
  • Guide appropriate screenings

A genetics evaluation should be considered for individuals with any of the following:

• A known genetic pathogenic variant/mutation identified in an individual or family member
• A known or suspected genetic disorder, birth defect, or chromosomal abnormality
• A newborn with any of the following:
  • Abnormal newborn screening test result
  • Congenital hypotonia or hypertonia
  • Unexplained intrauterine growth retardation
• A newborn, infant, or child with any of the following:
  • A single major anomaly, or multiple major and/or minor anomalies
  • Dysmorphic features that are not familial
  • Failure to thrive
  • A known metabolic disorder or symptoms of a metabolic disorder (Note: A normal newborn screening result does not rule out all metabolic disorders)
  • Abnormal brain MRI findings
  • Unusual growth patterns
  • Evidence of a connective tissue disorder
  • Congenital eye defects or blindness
  • Significant hearing loss or deafness
  • Cardiomyopathy not secondary to a viral infection
  • > 6 café-au-lait macules at least 0.5 cm in diameter
  • Unusual skin findings such as multiple types of lesions, multiple lipomas, numerous hypo– or hyperpigmented lesions, or albinism
  • Bilateral or multifocal malignancies
• A child with:
  • Developmental delay
  • Intellectual disability
  • Autism Spectrum Disorders
  • Immunodeficiency
  • Progressive muscle weakness

Full referral guidelines are referenced at the bottom of this page. If you are concerned about a patient’s personal or family history, a genetics professional can help determine if further risk assessment and/or genetic testing is indicated.  

• Talk to your patient and/or your patient’s family about recommendations for a genetics referral
• Emphasize the importance of making and keeping an appointment with a genetics provider
• For assistance locating the nearest genetics service provider in the New York Mid-Atlantic Caribbean Regional Genetics Network (NYMAC), go to Find a Genetics Clinic - NYMAC- Regional Genetics Network_[2]

• The Professional Practice and Guidelines Committee of the American College of Medical Genetics and Genomics (ACMG) Indication for genetic referral: a guide for healthcare providers _[3]
• American Academy of Pediatrics_[4]
• NYMAC Genetics - When to Refer Pediatric Patients to Genetics_[5]

National Society of Genetic Counselors (NSGC) Find a Genetic Counselor_[6] | A tool developed by NSGC for patients and providers to locate genetic counseling services in North America (U.S. and Canada)

Baby’s First Test_[7] | A website providing information about newborn screening and resources for families caring for a child with a genetic condition

GeneReviews through the NIH_[8] | Resource for providers about the diagnosis and management of patients with genetic conditions