Genetics E1- Genetic counseling

What is the process of helping people understand & adapt to the medical, psychological, & familial implications of genetic contributions to disease?

Genetic counseling

Genetic counselors are also _____

Clinicians, investigators, educators, & counselors

What is the primary data gathering tool of the genetic counselor?

Family history formatted as a pedigree

What does the creation of a pedigree involve at minimum?

3 generations, all individuals healthy & w/ health issues, ages & sexes, ages of dx, tx of relevant medical/developmental issues, ages & causes of death, pregnancies & losses (included weeks of gestation)

Approximately how many genes do humans have?

20,000

How many genes is clinical testing available for?

Over 10,000

What testing uses comparative genomic hybridization to pinpoint sub-microscopic deletions and duplications of the chromosomes (CNVs)?

Microarray

What is one of the most significant challenges associated with the advancements made in genetic technology?

Significant frequency of finding variants of uncertain significance (VOUS)

What are the classifications of variants identified on gene sequencing?

Pathogenic, likely pathogenic, uncertain significance, likely benign, benign

What family history would indicate a genetic counselor referral?

Usually early onset of disease, B/L disease, multi organ involvement, developmental delay, intellectual disability, autism, known birth defects or genetic conditions, sudden unexplained deaths, non syndromic hearing loss, epilepsy, or early vision loss