genetic counseling

Question 1

genetic/genomic medicine

Answer 1

study of human biologic variation as it relates to health and disease

Question 2

medical genetics/genomics

Answer 2

subspeciality of medicine involved in the diagnosis, treatment and prevention of genetic diseases

Question 3

what is the “organ” of lesion studied in medical genetics?

Answer 3

chromosomes and DNA

Question 4

what is genetic counseling?

Answer 4

the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease

Question 5

what does genetic counseling integrate?

Answer 5

-interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
-education about inheritance, testing, management, prevention, resources and research
-counseling to promote informed choices and adaptation to the risk or condition

Question 6

who are genetic counselors?

Answer 6

-translators of complex medical and scientific information for patients and providers
-bridges between patients and their medical care team
-expert educators of genetic information to all levels of learners
-advocates for those impacted by genetic disease
-innovators driving advances in patient care and genetic research

Question 7

what is the central tenet of genetic counseling?

Answer 7

non directiveness

Question 8

how do genetic counselors help patients?

Answer 8

-take detailed medical and family histories
-interpret and explain test results
-facilitate autonomous decision making
-connect with resources
-provide emotional support

Question 9

how do genetic counselors help providers?

Answer 9

-educate on appropriate use of genetic testing and types of results
-train medical students, residents, and fellows
-interpret genetic testing as part of research studies
-work with the disability community
-assist with ethical and legal challenges

Question 10

why is genetic counseling important?

Answer 10

-genetic testing is rapidly increasing in availability and decreasing in price
-personalized/genomic medicine is now our present, not our future
-genetics impact all areas of medicine

Question 11

child presents with pulmonary outflow obstruction, VSD, overriding aorta, right ventricular hypertrophy

Answer 11

tetralogy of fallot

Question 12

child has single or multiple cysts in the nuchal region
-failure of communication between lymphatic and vascular systems

Answer 12

cystic hygroma

Question 13

-idiopathic
-maternal diabetes
-viral, teratogenic (alcohol)
-aneuploidy (30%), copy number variants, single gene conditions

Answer 13

tetralogy of fallot

Question 14

-idiopathic
-viral, teratogenic
-isolated heart defect
-isolated birth defect
-aneuploidy (60%), copy number variants, single gene disorders

Answer 14

cystic hygroma

Question 15

what is the most sensitive/specific screen for aneuploidy in pregnancy?

Answer 15

non-invasive prenatal screening (NIPS)

Question 16

describe NIPS

Answer 16

-cell-free DNA isolated from maternal blood
-9 weeks, short half-life
-screens for T21, T18, T13, SCAs, triploidy, 22q11.2 deletion sydrome
-sensitivity for 21/18/13 (91-99%)

Question 17

NIPS is not a _____________________testing and should not be used to determine ____________________

Answer 17

diagnostic
pregnancy management

Question 18

what are ethical issues with NIPT/NIPS?

Answer 18

-multimillion dollar for profit business
-lack of informed consent/pre-test counseling
-multiple examples of false positive/negative result (terminating healthy babies)
-gender selection/ disability community
-not regulated by FDA

Question 19

prenatal recommendations

Answer 19

-fetal echocardiogram
-consult with pediatric cardiology
-prenatal visit with CV surgery, NICU
-follow with MFM
-delivery at tertiary care center

Question 20

postnatal recommendations

Answer 20

-consult pediatric genetics
-microarray
-enrollment in research study

Question 21

-the study of, or general subject of, abnormal development of tissue form
-describe an observable physical feature
-recognize this feature as suggestive of a specific diagnosis

Answer 21

dysmorphology

Question 22

what are the symptoms of Digeorge syndrome (22q11.
2 deletion)

Answer 22

-hearing loss
-laryngotracheoesophageal anomalies
-GI anomalies
-ophthalmic anomalies
-skeletal anomalies
-genitourinary anomalies
-CNS anomalies
-increased risk for psychiatric illness
-increased risk for autoimmune disease

Question 23

recurrence risk for future pregnancies

Answer 23

-classic 22q11.2 deletion- 90% de novo
-smaller deletions —-up to 60% inherited
-need to test parents for recurrence risk

Question 24

preimplantation genetic screening

Answer 24

-trophectoderm biopsy (removal of 1-2 cells day 5-6 after fertilization)
-screening (chromosome abnormalities)
-diagnosis (known chromosome abnormality, known single gene mutations, cost and accuracy limitations

Question 25

what are ethical implication with PGS

Answer 25

couples can select against certain traits