Genomics Flashcards
What is the Nurses role with Genomics
Role is in Genetic counseling, Obtaining appropriate history, evaluation and ethical issues with family and providing resources
What is the first line of nursing responsibility in genomics
Obtaining an accurate health history related to family conditions and disorders
What is phenotype?
It is the genetic markers that can be seen or are observable (eg Hair color, eye color, physical traits)
What is Genotype
It is the gene make up from parents. One gene from mom one from dad
What are autosomal dominate traits
affects male and female family members equally, carried on one chromosomal pair, offspring 50% chance of mutation or normal.
What are Autosomal Recessive
Relatives of a certain generation tend to have a condition, ethinic groups, children of blood related parents, 25% of offspring may have this condition.
x linked inheritence
may be recessive or dominant, genes located on the x chromosome, inherited recessive disorder seen in all males who have the gene Females with one affected gene are carriers
Some X linked disorders are
Muscular Distrophy, Hemophelia, Color Blindness, Duchens
Non pattern mutation disorders
Heart diseases, diabetes Environmental disorders
What is Aneuploidy
an extra or missing chromosone,
Chromosomal differeces are;
always associated with some degree of mental or physical disability, ie extra chrome = Downs, Causes 505 of spontaneous Miscarriages in the 1st trimester
The Rn is What in relation to genetic testing and screening
First line of defense and investigation, Receive family history in pt history interview
In nursing practice Counseling is key, What are the 5 main tasks of Nursing practice
- collect and interpret relevant family; medical history
- Identify those who need further genetic eval and counseling, (referrals to Genetic Services)
- Offer genetics info
- Collaborate with specialists
- Participate in management and coordination of care of patients with genetic conditions
What are genetic testing done on
blood, hair, skin amniotic fluid, or tissue
What are some genetic tests that are done
Prenatal screens, carrier testing, confirmation of genetic diagnosis, genetic susceptibility, disease screening, pharmacogeniomics disease profiling
