Genetic Counseling
Introduction
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 (GHR), Genetics Fact Sheets (Centre for Genetics Education), and Learn.Genetics (Genetic Science Learning Center)
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.
- 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.
Resources
Information & Support
For Parents and Patients
Genetic Counseling 101 (
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 ( 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.
Genetic Counseling Fact Sheet ( 50 KB)
Information, tips, and resources from the Utah Family Voices Health Information & Support center.
Are chromosomal disorders inherited? (GHR)
Brief introduction to how chromosomal disorders happen with links to other pages with more details including examples of chromosomal
abnormalities; from Genetics Home Reference.
Inheriting Genetic Conditions (GHR)
Description of inheritance patterns for autosomal dominant, recessive, x-linked, Y-linked, codominant, and mitochondrial;
from Genetics Home Reference.
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 (Genetic Science Learning Center)
Award-winning site for learning about all aspects of genetics, heredity, and health; from the University of Utah
Services for Patients & Families in New Mexico (NM)
| Service Categories | # of providers* in: | NM | NW | Other states (5) (show) | | ID | MT | NV | RI | UT |
|---|---|---|---|---|---|---|---|---|---|---|
| Adult Genetics | 1 | 2 | 1 | |||||||
| Genetic Testing and Counseling | 59 | 2 | 7 | 8 | 20 | 4 | 13 | |||
| Local Support Groups, Disability/Diag | 68 | 6 | 176 | 9 | 42 | 16 | 112 | |||
| Pediatric Genetics | 2 | 1 | 4 | 7 | 3 | 4 | 6 | |||
| Pediatric Metabolics | 1 | 1 | 2 | 2 | ||||||
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.