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Genetic Counseling

The field of human, medical, and clinical genetics is rapidly improving and expanding, such that molecular technologies unavailable just five years ago are routinely being performed in the general workup of a child with developmental delays and multiple congenital anomalies. Advancements in the diagnosis of children with developmental delays and/or birth defects is imperative in providing anticipatory guidance as well as accurate genetic counseling for parents and other family members who may be at an increased risk to have a child with certain genetic syndromes. Even if a diagnosis is not made at the initial time of referral, individuals with suspected genetic conditions should be re-referred to a genetics specialist during adolescence and times of transition for further evaluation and determination of the etiology of the condition.
For those individuals who had received their diagnosis as a child, follow-up evaluation with a geneticist in young adulthood is recommended to discuss medical, behavioral, and health issues that may arise in adults with that particular condition and to assist with transition into adult-based healthcare and vocational services. In addition, families should receive updated information on current research that may pertain to prognosis and guidance based on natural history studies, clinical trials that may be available, new treatment options, and strategies for improving outcome and independence. However, it is important to note that many genetic syndromes may not result in cognitive impairment, therefore, awareness of the medical aspects of the particular condition becomes imperative since adult healthcare providers may not be aware of the complexity of these conditions.
Because of this complexity, it is very important to start transition planning as early as possible, usually beginning in the teenage years. When a child has a genetic syndrome (confirmed or suspected), however, additional considerations for the individual and family need to be addressed. These include but are not limited to:
  • 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;
    • Adoption;
    • 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.
While transition from a pediatric setting to adult healthcare and vocational services can be a difficult adjustment for any child, this transition presents additional challenges to the child with developmental disabilities. When a genetic basis is the cause for the child's disability, transition planning must occur not only for the individual with the condition, but for other family members as well. Various resources are available to assist the family and primary care provider transition smoothly into adult-based care while educating the family about reproductive risks, options, and new therapeutic developments. Syndrome-specific support groups can provide guidance in advocating for additional services and identifying vocational opportunities. In addition, referral to a geneticist or genetic counselor during adolescence and early adulthood can further optimize the process of transition while helping the family cope with the new challenges that they will inevitably face.

Resources

Information & Support

For Professionals

Community Centered Family Health History
The Genetic Alliance, a coalition of advocacy organizations, provides family health history tools and related information.

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.

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)
Contains health supervision guidelines and other useful resources for the care of children with genetic disorders; American Academy of Pediatrics.

For Parents and Patients

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 (PDF Document 50 KB)
Information, tips, and resources from the Utah Family Voices Health Information & Support center.

Services for Patients & Families in New Mexico (NM)

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

Last update/revision: November 2008
Current Authors and Reviewers:
Author: Pilar L. Magoulas, MS, CGC
Reviewer: Alfred N. Romeo, RN, PhD