Have you been referred to genetic counseling or other genetic services? Do you know what to expect? Or know why you might want to follow up on that referral?
What are genetic services?
Genetic services include any testing, counseling, or educational resources that are provided for an individual that has or may be at risk of having a genetic condition. Genetic testing is used to detect a genetic disorder by analyzing small samples of body tissue or blood. Genetic counseling can involve checking family medical history, ordering genetic tests and evaluating their results, and helping parents understand and reach decisions about what to do next, including making decisions about the types of care that might be most appropriate. Genetic counselors can also share their experiences with families who have been through similar situations. Additionally, they can refer families to support groups, medical specialists, and mental health resources.
Who should access genetic services?
A genetic disorder is a medical condition that is caused by a DNA abnormality. It can be inherited from the parents or caused by a genetic mutation resulting from random or environmental factors. Humans have around 25,000 genes per cell and an error in just one gene can result in a serious genetic disorder. While some of the most commonly identified genetic disorders are conditions such as Down syndrome or Fragile X syndrome, others include cystic fibrosis, attention deficit hyperactivity disorder (ADHD), sickle cell disease, and type 1 diabetes. Nearly all diseases have a genetic component and many could be better managed through the use of genetic services.
The American College of Medical Genetics and Genomics strongly recommends that children with intellectual disability, developmental delay, or other congenital anomalies undergo genetic testing. Genetic testing can help to identify genetic variations which, in turn, will contribute to higher quality care for children with identifiable conditions. Click here to learn more about the organization’s recommendations.
Genetic Disorders and Special Education
Due to their genetic condition, some children may need a specially designed educational program. Through the Individuals with Disabilities Education Act (IDEA), the federal government has ensured that eligible children with disabilities have a right to free appropriate public education, which includes an individualized education program (IEP) that is tailored to the student’s specific needs. In order to qualify for special education services, a student must have a disability and require special education as a result of that disability. Click here to learn more about the special education process.
Genetic Resources
National Coordinating Center for the Regional Genetics Networks
NYMAC Regional Genetics Network
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