GENETIC COUNSELOR PROJECT

You and a partner will be acting as genetic counselors for the diagnosis of a disorder of your
choosing. You will be researching today and presenting your findings to the class in a day or two
(to be determined). The class will be acting as the people receiving the news. You will need to
keep the following in mind: 1)compassion people receiving news affecting their health or the
health of their children need to be treated gently you cant just list symptoms, 2)be concise
you cant talk forever because someone receiving a difficult diagnosis isnt going to listen for too
long after receiving the news (short and to the point BUT with compassion!), 3)visuals many
people want to know what does this look like? you will need a good website resource for this.
You will be graded on the following in your 3-5 (MAX.)minute presentation:
1) Your presentation cannot go longer than 5 minutes but it should be longer than 3 minutes.
2) You must cover ALL of the information in your presentation
a. How many people are affected (how rare it is for example: 1 in 500 babies are
born with this or 5 in 2,000 adults are affected with this)
b. How the disease/syndrome is passed genetically (is it passed only from mother to
son/daughter? Is it a recessive disease? A dominant disease? A co-dominant
disease?)
c. The prognosis (what does the future look like for the patient is there a cure? A
treatment being worked on? What treatments are available now? How long do
people with this disease/syndrome live?)
d. The symptoms of the disease/syndrome (remember, you must have some
compassion when doing this you cant just present a list of symptoms!)
e. A brief description of how the disease/syndrome works (what happens in the body
to CAUSE this disease/disorder/syndrome)
f. Answer the following question: How will this disease affect your patients life?
g. The presentation must include a simple explanation in case the patient either IS a
child or has to explain the disease to his/her child(ren).
h. If the diagnosis is for an unborn child, you must present options for the couple for
having future children (meaning will other children be affected? What are the
chances of having another child with this?)
3) You must have a WEBSITE LINKED PICTURE that we can pull up and have on the projector
for your presentation. WRITE THE WEBSITE ADDRESS DOWN and PRACTICE pulling it up
just to make sure you can access it!
4) Your description must be thorough but to the point. Ask yourself What are the basic
symptoms and basic outlook for this disease?
5) You will need a HANDOUT that contains the following: a brief listing of symptoms, at least
one VERY GOOD website whose focus is on SUPPORTING people with this disorder and/or
their family.
SOME DISORDERS FROM WHICH YOU CAN CHOOSE (feel free to look up/suggest a disorder
that interests you and your partner): Tay-Sachs, Huntingtons, Down Syndrome, Autism (not a
strong genetic link yet, but there will probably be one soon), Sickle Cell Anemia, Cystic Fibrosis,
Turner Syndrome, Fragile X syndrome, Cri du Chat, XYY (having an extra Y chromosome),
Progeria, Uner Tan Syndrome, Hypertrichosis, Epidermodysplasia Verruciformis, Severe Combined
Immunodeficiency Syndrome, Lesch-Nyhan Syndrome, Ectrodactyly, Proteus Syndrome,
Trimethylaminuria, Marfan Syndrome, Dwarfism, Albinism