genetic counseling Flashcards
genetic/genomic medicine
study of human biologic variation as it relates to health and disease
medical genetics/genomics
subspeciality of medicine involved in the diagnosis, treatment and prevention of genetic diseases
what is the “organ” of lesion studied in medical genetics?
chromosomes and DNA
what is genetic counseling?
the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease
what does genetic counseling integrate?
-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
who are genetic counselors?
-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
what is the central tenet of genetic counseling?
non directiveness
how do genetic counselors help patients?
-take detailed medical and family histories
-interpret and explain test results
-facilitate autonomous decision making
-connect with resources
-provide emotional support
how do genetic counselors help providers?
-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
why is genetic counseling important?
-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
child presents with pulmonary outflow obstruction, VSD, overriding aorta, right ventricular hypertrophy
tetralogy of fallot
child has single or multiple cysts in the nuchal region
-failure of communication between lymphatic and vascular systems
cystic hygroma
-idiopathic
-maternal diabetes
-viral, teratogenic (alcohol)
-aneuploidy (30%), copy number variants, single gene conditions
tetralogy of fallot
-idiopathic
-viral, teratogenic
-isolated heart defect
-isolated birth defect
-aneuploidy (60%), copy number variants, single gene disorders
cystic hygroma
what is the most sensitive/specific screen for aneuploidy in pregnancy?
non-invasive prenatal screening (NIPS)
describe NIPS
-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%)
NIPS is not a _____________________testing and should not be used to determine ____________________
diagnostic
pregnancy management
what are ethical issues with NIPT/NIPS?
-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
prenatal recommendations
-fetal echocardiogram
-consult with pediatric cardiology
-prenatal visit with CV surgery, NICU
-follow with MFM
-delivery at tertiary care center
postnatal recommendations
-consult pediatric genetics
-microarray
-enrollment in research study
-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
dysmorphology
what are the symptoms of Digeorge syndrome (22q11.
2 deletion)
-hearing loss
-laryngotracheoesophageal anomalies
-GI anomalies
-ophthalmic anomalies
-skeletal anomalies
-genitourinary anomalies
-CNS anomalies
-increased risk for psychiatric illness
-increased risk for autoimmune disease
recurrence risk for future pregnancies
-classic 22q11.2 deletion- 90% de novo
-smaller deletions —-up to 60% inherited
-need to test parents for recurrence risk
preimplantation genetic screening
-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
what are ethical implication with PGS
couples can select against certain traits
