Flashcards in Adult Genetics/Challenges Families Face Deck (11):
What are the reasons for referral to adult genetics clinic?
Diagnosis/initial assessment in a symptomatic patient, further evaluation/management
of a known diagnosis, risk assessment in an asymptomatic patient with + family history
What is the utility of genetic testing?
Confirm the diagnosis, more focused care, test at-risk family members, assist in reproductive decision-making
What is a PMGP?
Personalized medical genome profile
When should you be suspicious of a genetic cause in diagnosis?
Early age onset, two or more family members w/ same disease, more than one type of cancer in family, no obvious risk factors even though you have a disease
Name different types of genetic testing.
Molecular - sequence or deletion/duplication analysis
Chromosomal Microarray (CMA)
Name two complex genetic disorders that have multifactorial influences.
Give an example where personalized genomic evidence can be effective. (Hint: blood thinner)
Warfarin - genetic disorders can lead to improper metabolism of this blood thinner (either too slow or too quick, which can lead to clotting or bleeding out)
Testing can determine exactly how much warfarin to administer to patient
What are a few challenges of personalized medicine?
Privacy, legislative logistics, IT infra, reimbursement
What are challenges for the pediatric patient/family?
diagnostic odyssey, management marathon (once the diagnosis is made there can be a
long list of recommendations for the parents to follow), undefined itinerary (sometimes
the diagnosis is so RARE/NEW to the medical community that there are no clear
guidelines to follow and parents have no idea about potential problems), household
havoc, transition threshold (education, sexuality)
What are the ACMG (American College of Medical Genetics) requirements for any genetic testing protocol?
A knowledgeable professional should be involved, consumer should be fully
informed, the scientific evidence on which a test is based should be clearly stated, clinical
lab must be accredited, privacy concerns must be addressed.