1. Diagnosing Genetic Disorders

2. Detecting Genetic Disorders
Genetic screening examines a person’s genotype and can determine their likelihood of developing a disorder or the probability of passing a particular disorder to their offspring
Prenatal tests determine if a fetus has a particular disorder or not
Amniocentesis: Sampling of amniotic fluid that surrounds the fetus (detects Down Syndrome, spina bifida, cystic fibrosis, etc.)
Chorionic Villi Sampling (CVS): Extraction of a sample of cells from the placenta (can also detect Down Syndrome and other genetic disorders, but not neural tube defects like spina bifida)

3. Genetic Counselors
These are professionals who inform screened individuals (the parents) about the probabilities of their offspring having a disorder
For example…two carriers of a particular autosomal recessive disorder want to have a child (and mom is not yet pregnant)
Parents = Aa x Aa
25% chance their child would have the disorder
Can also help parents make informed decisions if a fetus tests positive for a particular disorder

4. Genetic Treatments vs. Cures
Treatments help alleviate symptoms, but do not get rid of a disorder completely
Cures do completely get rid of the disorder
Gene Therapy: Defective gene is replaced with a copy of the healthy gene
Somatic Cell Gene Therapy: Genetically alters only body cells
Germ Cell Gene Therapy: Genetically alters germ/sex cells (egg and sperm)…what ethical implications do you see with this?

5. Somatic Cell Gene Therapy
Good success rate, but it is a process that has to be regularly performed throughout patient’s life
Since only the patient’s body cells are altered, the change will not be passed to offspring

6. Germ Cell Gene Therapy
ALL cells of new individual are affected…body and sex cells
Since ALL cells are altered, the change will be passed to offspring
Process does not have to be repeated throughout person’s life