Genetics Services at CHRISTUS Health

At CHRISTUS Health, a dedicated team offers comprehensive services in evaluation, diagnosis, genetic counseling, management, and treatment for both children and adults with known or suspected genetic and metabolic conditions. The process typically begins with a thorough medical and family history, a physical examination, and, if recommended, a discussion about genetic testing. When a genetic diagnosis is confirmed, families receive information on inheritance patterns, potential complications, prognosis, and testing options for at-risk relatives.

Genetic Evaluations

Genetic evaluations are available for individuals of any age, evaluating conditions such as:

• Developmental delay
• Intellectual disability
• Autism
• Birth defects
• Deafness
• Epilepsy
• And other genetic conditions

State-of-the-art genetic testing is part of the standard evaluation, followed by a detailed management and treatment plan, ensuring that patients and their healthcare teams fully understand the condition and how to address it.

Genetic Counseling

Genetic counselors at CHRISTUS Health are trained to interpret genetic risks, explain testing options and results, and support individuals and families in adapting to genetic diagnoses. They work closely with physicians to develop personalized health plans.

Counseling and testing services include:

• Cancer genetics
• Preconception counseling
• Assessment based on family history of genetic conditions
• Maternal age-related risks
• Coordination of prenatal screening and diagnostic testing (e.g., CVS, amniocentesis)
• Interpretation of abnormal newborn screening or maternal serum testing
• Ethnic-based risk assessments for carrier screening (e.g., cystic fibrosis, thalassemias)
• Evaluation after recurrent pregnancy loss or concern over teratogen exposure
• Assessment of soft markers or ultrasound-detected structural anomalies

Genetic Testing

Genetic testing involves identifying changes in chromosomes, genes, or proteins to assess the risk of inherited conditions. Common types include:

• Carrier testing to determine the potential for passing a gene to offspring
• Diagnostic testing for symptomatic individuals
• Predictive or pre-symptomatic testing for early risk detection
• Prenatal testing to identify genetic changes before birth
• Newborn screening for conditions like cystic fibrosis or sickle cell anemia

Patients may be referred based on symptoms, personal or family health history, or reproductive planning. Testing typically involves samples such as blood, saliva, or cheek swabs, which are analyzed in a laboratory. Results can be positive, negative, or uncertain, and genetic counselors offer guidance to understand their implications.

When to Seek Referral

Common reasons for genetic referral include:

• Abnormal newborn screening or genetic test results
• Autism spectrum disorders
• Birth defects or chromosomal disorders
• Intellectual disability or developmental delay
• Dysmorphic features
• Family history of genetic conditions
• Single-gene disorders
• Sensory impairments (hearing or vision)
• Neurocutaneous disorders
• Skeletal dysplasia
• Teratogen exposure
• Other suspected genetic syndromes

CHRISTUS Health notes they do not accept referrals for:

• Adult hypermobility
• MTHFR testing or counseling
• Interpretation of direct-to-consumer genetic test kits (e.g., 23andMe, AncestryDNA)
• Pharmacogenetics testing or interpretation
• Paternity testing