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Flashcards in Genetic Testing Ethics Deck (36)
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what is genetic testing?

a laboratory test of a person’s genes or chromosomes for abnormalities, defects or deficiencies, including carrier status, that are linked to physical or mental disorders or impairments, or that indicate susceptibility to illness, disease or other disorder, whether physical or mental, which test is direct test and not an indirect manifestation of genetic disorders


what are the two types of genetic testing?

1. diagnostic: determines cause of a disease

2. predictive: determines risk for a disorder


for which diseases is predictive genetic testing done?

1. cystic fibrosis

2. breast cancer

3. huntington's


what are BRCA1 and BRCA2?


so if these genes are mutated, it's linked to hereditary breast and ovarian cancer


what are some reasons to do genetic testing?

1. woman delivers a stillborn child with physical signs of a genetic illness

2. pregnancy over 34

3. if standard prenatal screening test had an abnormal result

4. confirmation that a medical problem has a genetic cause due to a particular syndrome

5. if there's a family incidence of an inherited illness

6. there's already a child with a severe birth defect

7. woman has had two or more miscarriages


what are the pros to genetic testing?

1. advance medicine and public health

2. correlate disease to genes

3. allow individuals and families to make lifestyle, fertility and planning decisions.

4. may be reassured by a negative result


what are the cons to genetic test?

1. payment

2. potential to lose health insurance


what's the nondiscrimination information act?

prohibits group health insurance plans and issuers of coverage from basing eligibility or adjusting premiums on the basis of genetic information

insurance companies cannot require or purchase results of genetic tests

prohibits employers from firing, refusing to hire or otherwise discriminating against (potential) employees


what are the implications of genetic testing?

- choices to terminate pregnancy

- choices not to have children

- presymptomatic treatment of patients identified with CF has not been shown to delay onset of disease.

- genetically affected children may be discriminated against, by being ‘classified’ by education systems


what is 23andMe?

biotech firm tests a saliva sample for $100

provides information about:
- who your ancestors were

- the risks you have of developing various diseases


what is PGD?

pre-implantation genetic diagnosis


what are the current prenatal genetic testing options?

1. amniocentesis

2. chorionic villus sampling

3. multiple-marker screening test

4. cell-free fetal DNA test


what is amniocentesis?

needle aspirates amniotic fluid through abdomen/uterus at 16 to 18 weeks

- chromosomal abnormalities

- genetic disorders

- neural tube defects


what is CVS?

needle aspiration of chorionic villi through abdomen/uterus or cervix at 11 to 13 weeks

- chromosomal abnormalities

- genetic disorders


what is multiple-marker screening test?

maternal blood draw at 15 to 20 weeks

- down syndrome

- edwards syndrome

- neural tube defects


what is cfDNA?

maternal blood draw at 10 weeks

- DS
- patau syndrome
- edwards syndrome
- sex chromosome disorders


does insurance cover genetic testing?

most times no

they're not mandated to


what does HESC stand for?

human embryonic stem cell research


what is gremlin gene therapy?

eliminate “bad” genes from the individual and from his descendants

has been attempted on human embryos in China using CRISPR with limited success


what is somatic gene cell therapy?

normally functioning gene is inserted into the patient’s genome using a viral vector

inserted gene is translated into a normal gene product (a protein)

new genes are not inserted into the patient’s germ cells, so no changes are passed on to offspring


what is CAR-T treatment?

Chimeric Antigen Receptor T-cell (CAR-T) Treatment

"Program” T-cells to target cancer cells


how do you treat mitochondrial disorders?

use a donor egg with healthy mitochondrial DNA and remove the DNA from the nucleus

maternal DNA is places in the nucleus of the donor egg

paternal sperm fertilizes this donor egg

so the resulting embryo has DNA from 3 individuals


when are HESC harvested?

derived in vitro at day 5 of embryonic development

HESCs are harvested from inner cell mass of blastocyst which would eventually become embryo

embryonic stem cell lines may continue to divide for many months to years

the embryo itself though is destroyed


what's the 14 day rule?

prohibits experimentation on human embryos older than 14 days

this is the point at which body axes and the neural tube begin to form

it's before the development of a nervous system that could allow the embryo to feel pain or think (primitive streak)


what are some possible alternatives to HESCs?

Umbilical cord blood

Stem cells found in amniotic fluid

Induced Pluripotent Stem Cells (iPSCs)

Synthetic Human Embryo-Like Entities (SHELEs)


what is umbilical cord blood used for?

currently used as an alternative to bone marrow transplantation


what are iPSCs?

Induced Pluripotent Stem Cells

convert adult human skin cells into cells with the properties of HESCs

activate 4 genes in the adult cells, utilizing a retrovirus, to reprogram into pluripotent cells

unknown if they have the same potential as HESCs and they may induce tumors due to the use of retroviruses


what are SHELEs?

Synthetic Human Embryo-Like Entities

formation of vascularized embryoid bodies through vascularization and tissue engineering

current ethical and legal guidelines don't recognize SHELEs and limit the use of methods that might allow research in tissue engineering to proceed


what is SCNT?

Somatic Cell Nuclear Transfer

nucleus of an egg is removed and replaced by the nucleus of a mature somatic cell


what is the cloning process?

skin cells from adult get added to an egg and then an electric pulse causes skin cels to fuse with the egg

then the cell divides and the early stage embryo is implanted in surrogate mother