Genetic basis and inheritance of condition - The recurrence risk for individuals with genetic syndromes, their siblings, and
their parents depends on the genetic basis and inheritance of the condition and can range from very low risk (<<1%) to 50%
risk. Genetic conditions can be divided into one of several patterns of inheritance:
- Sporadic / de novo (i.e., Down syndrome, Williams syndrome);
- Autosomal recessive (i.e., Most inborn errors of metabolism);
- Autosomal dominant (i.e., Neurofibromatosis, Marfan syndrome, Velo-cardio-facial syndrome);
- X-linked recessive (i.e., Fragile X syndrome); and
- Other patterns of inheritance (i.e., mitochondrial, imprinting).
- Reproductive options - Adolescents and young adults with genetic conditions need to be aware of the various reproductive options
available to them in order to make the best decision for themselves and their family. Ideally, an in-depth discussion pre-conceptionally
should occur between a genetic counselor and the individual, during which the medical and psychosocial implications surrounding
reproductive choices can be further explored.
- Preimplantation genetic diagnosis - In vitro fertilization followed by genetic testing of the embryos and implantation of 'unaffected' embryos;
- Sperm/egg donation;
- Contraception; and
- Risks, benefits, and limitations.
- Pediatric multi/inter-disciplinary care vs. adult-based healthcare:
- Many genetic conditions are typically thought of as occurring in the pediatric population, however, since the survival rate of children with chronic conditions have improved greatly over the last few decades, these children will likely survive into adulthood, thus continuing to require specialized and interdisciplinary care.
- During transition to adult healthcare however, adolescents and their families will face numerous challenges in accessing adult health care providers who can give adequate and specialized care to this population.
- Geneticists are often familiar with the natural history of a particular condition and can assist and educate the primary care provider and families regarding medical management and potential complications that may arise in adulthood.
Community Centered Family Health History
The Genetic Alliance, a coalition of advocacy organizations, provides family health history tools and related information.
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.
Intermountain Healthcare Clinical Genetics Institute
Provides clinical medical genetics services and genetic counseling at two outreach clinics in Salt Lake City, and Logan, Utah.
Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. It includes health supervision guidelines and other useful resources; represents a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
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.
We currently have no Adult Genetics service providers listed; search our Services database for related services.
We currently have no Cancer Genetic Counseling/Risk Assess service providers listed; search our Services database for related services.
See all Genetics, Prenatal services providers (1) in our database.
See all Local Support Groups, Disability/Diag services providers (10) in our database.
See all Pediatric Genetic Counseling services providers (1) in our database.
We currently have no Pediatric Genetics service providers listed; search our Services database for related services.
See all Pediatric Metabolic Genetics services providers (1) in our database.
We currently have no Prenatal Genetic Counseling/Diagnosis service providers listed; search our Services database for related services.
For other services related to this condition, browse our Services categories or search our database.