You are the Counselor

What skills do I need to be genetic counselor? Master’s degree in Genetic Counseling Strong person-to-person communication skills Looking for an alternative to research

What do genetic counselors do? Work for hospitals, private physicians and genetic testing companies conduct genetic tests and study patients' medical and family histories to uncover risks of contracting genetic conditions, particularly in prenatal medicine and oncology.

Genetic Counselors are in demand This is a growing field with opportunities in the field expected to grow by 20% in the next 7 years. Pay scale ranges from $40 - $100,000 per year with a median salary of $63,000

Huntington Disease Rare disorder (1 in 10k) Caused by autosomal dominant gene on chromosome 4 If one parent is a carrier, offspring have 50% chance of receiving the gene

Huntington Disease Symptoms do not appear until 30s and 40s Jerky, involuntary muscle contractions (loss of muscle control) Balance problems Caused by degeneration of neurons in the brain No cure (fatal) Can treat side effects with medicines

Cystic Fibrosis Caused by an autosomal recessive trait on chromosome 7 Two carrier parents will have a 25% chance of producing a child affected by CF Most common genetically inherited disease in people of European descent Victims live ~30 years

Cystic Fibrosis Normally watery mucus becomes thick and sticky Mucus blocks airways, making it difficult to breathe and easy for bacteria to grow (causing serious infections) Can also affect pancreas, liver, intestines, and sinuses, and nail beds

Sickle Cell Anemia Caused by a recessive trait If heterozygous, person will have “sickle cell trait” (carrier for disorder) Can pass to offspring

Sickle Cell Anemia Blood disorder which causes the normal, donut- shaped cells into sickle- shaped cells Normal blood cells are very pliable and can move easily through blood vessels. Sickle cells are not pliable, and have a hard time moving through blood vessels

Sickle Cell Anemia Type of anemia (decreased number of red blood cells) Sickle cells die faster (10-20 days) Bone marrow cannot replace red blood cells fast enough

Sickle Cell Anemia Sickle cells cannot reach small blood vessels (tend to get stuck) Results in decreased blood flow (could result in damage to organs) Very painful Can cause infections No cure Treat symptoms Blood transfusions may help

Tay-Sachs Autosomal recessive inheritance Primarily affects people of Eastern European and Jewish decent 1 in every 250 people are carriers

Tay-Sachs Lacking enzyme Hex A, which breaks down fatty acids Fatty acids accumulate in the nerve cells of the brain Muscles atrophy and paralysis sets in Fatal No cure (can manage pain, seizures and muscle spasms)

Tay-Sachs Testing can be done via chorionic villus sampling of the placenta between weeks or via amniocentesis (of amniotic fluid) between 15 and 18 weeks of gestation

Phenylketonuria (PKU) No cure Modified diet can help Foods low in phenylalanine (fruits, veggies, low-protein breads and pastas) Autosomal recessive inheritance Easily preventable side effects (all babies tested at birth using blood)

Phenylketonuria (PKU) Metabolism disorder Defective enzyme, which is needed to break down the amino acid phenylalanine Body can’t process phenylalanine (found in almost ALL foods) Can cause brain damage if the concentration becomes too high

Hemophilia X-linked recessive inheritance (males are affected, females are carriers) Can be acquired (ex. Cancers, liver disease, bone marrow issues, pregnancy, certain medicines)

Hemophilia Rare bleeding disorder Missing a protein needed to clot (blood doesn’t clot properly) Tend to have internal bleeding, especially in knees, ankles, and elbows