Genetic Counseling

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.

There isn’t anyone in our family with this condition – how can it be genetic?

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.

What is the difference between a genetic disorder and a chromosomal disorder?

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.

What do I need to think about if I want to plan for a family of my own?

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.

I already have a diagnosis, why do I need to see a genetic counselor or geneticist?

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.

How do I find out if there are new treatments for my condition or if there is any new information about my condition?

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 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.

What do I need to keep in mind as I transition from my pediatrician to an adult health care provider?

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.”

Why should I consider joining a support group if I’m managing my condition?

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.


Information & Support

For Parents and Patients

Genetic Counseling 101 (PDF Document 132 KB)
A brief discussion of the roles and types of genetic counselors; when to refer to a genetic counselor, and contact information for Utah.

Genetics Counselors (PDF Document 126 KB)
A transcript of a conference call (January 2006) with a genetic counselor providing an overview of genetic counseling; types and roles of genetic counselors; when to refer; billing issues; and more from the Utah Collaborative Medical Home Project.

Genetic Alliance
A nonprofit health advocacy organization committed to transforming health through genetics and promoting an environment of openness centered on the health of individuals, families, and communities; their site provides access to myriad resources, services, policies, and publications.

National Society of Genetic Counselors
Information regarding genetic counseling services. Provides a search for local genetic counselors.

Are chromosomal disorders inherited? (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources; from the National Library of Medicine.

Inheriting Genetic Conditions (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources; from the National Library of Medicine.

Genetics Fact Sheets (Centre for Genetics Education)
Information on genetics, genetic counseling, inheritance patterns, and genetic conditions.

What is a Gene? (Kids Health)
Description of genes, genetic problems, and gene therapy for kids.

Learn.Genetics (GSLC)
Award-winning site for learning about all aspects of genetics, heredity, and health; Genetic Science Learning Center, University of Utah.

Services for Patients & Families Nationwide (NW)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

Authors & Reviewers

Initial publication: December 2005; last update/revision: January 2020
Current Authors and Reviewers:
Author: Pilar L. Magoulas, MS, CGC
Reviewers: Alfred N. Romeo, RN, PhD
Chuck Norlin, MD