The science of genetics is growing quickly, with new discoveries happening every day. Many genetic tests and tools are now available to help with understanding, diagnosis and, in some cases, treatment of genetic conditions. It’s important, as a child with a genetic condition becomes an adolescent, to start planning for the transition (move) to adult health care early enough to get answers to questions like the ones below.

Some genetic conditions are caused by a random, or sporadic, mutation in an egg or sperm, while other conditions can be inherited by (passed on to) children from their parents.

Genetic conditions are those caused by an abnormality of a gene, a chromosome or other component of our genetic material. Chromosomal disorders are a subset of genetic disorders that result from a change involving all or most of one of the 46 chromosomes found in each cell of the body. An example is Down syndrome, also known as trisomy 21, where there is an extra 21st chromosome. Chromosomal disorders usually happen randomly when changes occur in a chromosome, like extra copies or missing chromosomes. Most chromosomal disorders are not inherited.

Genetic conditions are inherited in different ways. Some people may have the abnormal gene and the condition, while other people may not have the condition but still have the abnormal gene (though usually only one of their two similar genes is abnormal). Inheritance patterns (commonly called dominant, recessive, x-linked, etc.) can be complicated. For more information about these patterns, see Inheriting Genetic Conditions (MedlinePlus), Genetics Fact Sheets (Centre for Genetics Education), and Learn.Genetics (GSLC)

A genetic counselor or geneticist can help you figure out if a condition can be passed on to children. When you and your partner are ready to think about having children, genetic testing may be useful to see if your partner also has the gene for the condition.

Because the science of genetics is advancing quickly, new information about a condition may be available and important. Researchers may have learned more about how the condition happens, or new ways to manage it. A genetic counselor can help figure out if there are other medical, behavioral, or mental health concerns to be aware of as you become an adult.

Your medical home can help you find information about different or new treatments or refer you to specialists who can. You may hear about new treatments or medications that are very new and not available to the public, but may be available through clinical trials or research studies.

Research studies that are open and recruiting participants can be found at ClinicalTrials.gov. Types of research studies include:

• Clinical trials usually include research on a new medication, procedure, or other treatment. In clinical trials, the researchers want to see if a new treatment works better than another treatment or no treatment. The research participant (you) may be assigned to a group receiving no treatment, or the new treatment, or another treatment. It is important to understand the potential benefits and risks of participating in a clinical trial.
• Observational studies usually do not involve a new treatment. Participants in these studies will usually continue their existing treatment or medications, and compared with participants using different treatments or medications to see if one treatment works better than another. Observational studies also help researchers learn about the way a condition affects people over its course, including occurrence of complications and life expectancy.

Adult health care providers may not know about the complexities of some genetic conditions with which pediatricians are familiar. The family may know more about the condition than the adult health care provider. Transition may include support from your medical home/primary care provider and other professionals working together as a team to help the young adult and family and to help the adult care provider “get up to speed.”

Condition-specific support groups do more than help families learn about and cope with managing the condition. They may provide assistance and advocacy related to accessing insurance and new treatments. They may also help with support for employment. Some even help fund research and training of providers about the research findings.