|
How to work up and write up genetics patients
Students and Residents
In Genetics clinics the goals are to:
-
Make accurate diagnoses - (these are the basis of #s 2, 3, 4)
-
Set up and follow health care plans that maintain health and provide for
optimum outcomes
-
Provide “genetic counseling” - know the 5 steps
-
Try to contribute to the well being of the patient. When you are assigned a patient in genetics clinic, we want you to assume the
primary role in the diagnosis and care of that patient.
Prior to clinic:
1. Throughly review genetics file, hospital chart, Power Chart - you should
“know” every thing in these files.
2. If growth charts have not been plotted do that with previous measurements. (Plot for “exact” age)
3. For a known diagnosis, ex. Neurofibromatosis, Marfans, Downs etc,
a. Read chapter in Emory and Rimoin
b. Do a MedLine search and copy and read at least one current
entire article (not abstract)
c. Check the 2 preventive care books in the genetics library for care plan
recommendations (Cassidy and
Allanson,
Management of Genetic Syndromes; Wilson and Cooley, Preventive
Management of Children
with Congenital Anomalies and Syndromes.)
d. Make a plan for clinic visit based on this reading: ex. check growth, school,
diet, labs planned etc.
4. For an unknown diagnosis, ex. developmental delay/MR, growth failure,
dysmorphology etc.
a. Read appropriate chapter in Emory and Rimoin, Metabolic Basis of Genetic
Disease or other appropriate
text.
b. Make a differential and provisional diagnostic plan.
5. If green sheet is available put all new information on the sheet. Mark
data you want to clarify or expand on etc. clinic
(If not write on a yellow progress note sheet).
At Clinic:
1. Review Green sheet with the patient or parents, filling in any holes and
clarifying information.
2. Take a complete 4 generation pedigree - see instruction sheet.
3. Do the appropriate dysmorphology examination for presenting symptoms. Put all measurements on the green
sheet, look up all percentiles and
plot HT, WT and HC
4. Present patient to attending: concise history, exam, family history,
conclusions and tentative plans (records to send
for, labs, etc).
After Clinic:
1. Fill in any remaining information on the Green Sheet.
2. List the pertinent diagnostic features. Ex. Growth, development, neurology,
dysmorphology, family history.
3. Using the literature and genetics computer programs generate a more targeted
differential and strategy for
diagnosis.
4. Write a clinic note that covers information in green sheet. The most
important section is the Impression and this
should be a concise “essay” outlining the pertinent positives and negatives, your
problem list and differential.
Develop a plan that lists “exactly” what you plan to do and what you want others to do (ex. referring
physician,
parents, therapists etc.)
5. Check all laboratory results and report to attending when they come in. (This
means you need to keep a list of
outstanding labs on your patients and make sure they are followed up on)
6. Finish filling out the Green sheet including the diagnosis page after
confirming with attending the diagnosis code.
At Monday Rounds:
1. Be prepared to concisely and thoroughly present the patients you saw. You
are expected to read at least one text
book chapter and one primary article and report on that information.
Other:
1. keep a list of every patient you work up during your genetics rotation
and give Dr. Miles a copy at the end of your
rotation. The list should include
the diagnosis and any loose ends that need to be tied up when you finish
your rotation.
Remember:
1. The Green sheet is our main work sheet so use it to take your history and
record addition history from the chart
and outside records. Don’t use little
pieces of paper that get lost.
Division of Medical Genetics
University of Missouri Health Care
One Hospital Drive
Columbia, Missouri 65212
phone:
573-882-6991
fax: 573-884-3543 |
