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Question 1

what does medical genetics focus on?

Answer 1

this focuses on diagnosis & managment of the medical, psychological, & social aspects of diseases involving mutations or influence of genes

Question 2

what is medical genetics?

Answer 2

discipline involving a range of health professionals

Question 3

what is family focus of medical genetics?

Answer 3

related to both medical care/ management of the pateint & forward-looking consideration of future of future offspring

Question 4

what are the three types of hereditary disease?

Answer 4

-mendelian conditions
-chromosomal conditions
-multifactorial conditions

Question 5

what are mendelian conditions?

Answer 5

-caused by mutation of a SINGLE gene
-autosomal dominant/recessive, X-linked dominant/recessive, Y-linked, & mitochondrial
-can be inherited by one or both parents or may be a new mutation

Question 6

chromosomal conditions

Answer 6

-caused by an extra chromosome, a missing chromosome, duplication or deletion of a chromosome segment, & certain structural rearrangements of chromosomes; trisomy 21
-dev. and phys abnormalities can result due to human sensitivity Gene Dosage
-conditions may involve the autosomes or the sex chromosomes

Question 7

what are multifactorial conditions?

Answer 7

-influenced bu multiple genes & environmental factors (diabetes)
-increased likelihood referred to as “inherited susceptibility” which varies
-variation is due to differing mutant allele frequencies in different populations

Question 8

what are some different types of genetic testing?

Answer 8

-molecular analysis
-biochemical analysis
-chromosome analysis

Question 9

explain molecular analysis

Answer 9

-tests DNA or RNA & is useful when there is suspicion of a specific mendelian condition

Question 10

explain biochemical analysis

Answer 10

tests blood or tissues for absence of presence of certain proteins, as well as levels; also tests for variant proteins associated with the condition

Question 11

explain chromosome analysis

Answer 11

tests for chromosomal causes of fetal or infant malformations, unexplained mental impairment or physical abnormalities at any age, & long-term infertility in adults

Question 12

what does carrier testing do?

Answer 12

identifies individuals who are heterozygous for recessive conditions or have a chromosomal abnormality that could produce a condition in a future child

Question 13

do carrier individuals have the genetic condition?

Answer 13

no

Question 14

in some cases, carrier frequency is so high that testing is required as a public health effort, what is this the case for?

Answer 14

Tay-Sachs disease in Ashkenazi Jewish Populations

Question 15

what is pre-symptomatic testing?

Answer 15

used for genetic conditions wiht a late age of onset, few diseases can be tested this way

Question 16

by age 40, only about ____ of people
with the ________ ___________ mutant allele for ____________- disease WILL show the condition

Answer 16

50%; autosomal dominant; Huntington

Question 17

what type of testing is mandated?

Answer 17

newborn testing

Question 18

what is newborn testing?

Answer 18

mandated genetic tests that together require only a few drops of blood from a heel stick

Question 19

what contains the list of genetic diseases recommended for testing?

Answer 19

Recommended Uniform Screening Panel (RUSP)

Question 20

how many core hereditary conditions are there that nearly all states test for?

Answer 20

34

Question 21

how many secondary conditions are there fpr each state to consider including alongside the core testing?

Answer 21

25

Question 22

what is newborn genetic testing aiming to do?

Answer 22

-save lives
-reduce medical costs
-support the well-being of families

Question 23

when a test is positive in newborn testing, what is followed?

Answer 23

immediate treatment

Question 24

what is prenatal testing?

Answer 24

it is performed during pregnancy to detect a condition in a fetus including chromosomal abnormalities

Question 25

is testing for prenatal testing invasive?

Answer 25

yes! they have to collect the blood of the fetus

Question 26

how do we obtain the fetus’s genes in prenatal testing?

Answer 26

-placenta tissue through chronic villus sampling (CVS)
-amniotic fluid through amniocentesis
-some are diagnosed through ultrasound or maternal serum testing

Question 27

what type of conditions are likely to be identified in prenatal testing?

Answer 27

-chromosomal conditions such as trisomy 21, as well as DNA mutations of specific genes

Question 28

are chromosome conditions likely to be treatable?

Answer 28

no, this causes ethical conflicts about keeping or terminating the pregnancy

Question 29

explain amniocentesis

Answer 29

this uses a needle to penetrate the uterus & placenta of a pregnant woman to get amniotic fluid, which contains fetus cells
-these cells are obtained between the 14th & 18th week of pregnancy & there is a risk of fetal loss

Question 30

explain chronic villus sampling (CVS)

Answer 30

this uses a small tube passes transvaginally into the uterus to obtain tissue from the chorion on the outside of the placenta (fetal derived portion)
-this occurs as early as the 10th week of pregnancy & has a higher risk that amniocentesis

Question 31

what is maternal serum screening?

Answer 31

this measures levels of three porteins in a pregnant woman’s blood between the 15th & 20th week of gestation

Question 32

what are the three proteins that are associated with elevated risks of two trisomy conditions, & one that indicated possible neural tuve defect?

Answer 32

AFP level, uE3 level, & HCG level

Question 33

is MSS a diagnostic test?

Answer 33

no! it is only screening- indicated increased likelihood of a condition rather than presence of a condition

Question 34

if MSS suggests possible down syndrome in the fetus, what testing may be recommended

Answer 34

karyotyping

Question 35

what is fetus cell sorting

Answer 35

this identifies & isolates fetal cells in maternal blood circulation for DNA & chromosome analysis

Question 36

what has fetal cell sorting been used to identify?

Answer 36

• cystic fibrosis
• spinal muscular atrophy

Question 37

what does preimplantation screening test for?

Answer 37

for hereditary diseases in fertilized embryos produced by in-vitro fertilization

Question 38

what is IVF

Answer 38

a method of assisted reproduction for individuals & couples- expensive & not covered by ins. with this, ovulation is induced by hormone injections, eggs are removed from the surface of the ovaries, & the eggs are stored or used immediately for fertilization

Question 39

when might an egg have one cell removed for preimplantation genetic screening using PCR?

Answer 39

to identify recessive genetic conditions when parents are normal carriers

Question 40

what is the success rate for fertilized eggs implanted into the uterus?

Answer 40

15-40%

Question 41

describe direct to consumer testing

Answer 41

offered by for-profit companies
-often duplicated medically available genetic carrier testing
-proved info about inheritance of genetic markers associated with certain hereditary conditions

Question 42

what types of various types of personal genetic information testing is offered?

Answer 42

ancestry, carrier status, drug response, & likelihood or certain physical traits

Question 43

how many medical conditions is 23andMe allowed to identify & who is more likely to develop those conditions?

Answer 43

10, individuals carrying certain single nucleotide polymorphism (SNP) (this only shows association does not cause conditions- only show association!

Question 44

ELSI project

Question 45

Genetic Information Nondiscrimination Act (GINA) of 2008

Answer 45

this restricts use of personal genetic information in issuing health insurance & life insurance, & in employment decisions

Question 46

Affordable Care Act (ACA) of 2010

Answer 46

this excludes the use of personal genetic information in issuing health insurance as part of the clause preventing use of preexisting conditions as a basis for rejection