GENETIC COUNSELING, TESTING & TREATMENT

Question 1

Specialized health care service provided by professionals known as genetic counselors
 Primary aim: to help individuals &
families understand and make informed
decisions about genetic conditions that
may affect them or their offspring

Answer 1

GENETIC COUNSELING

Question 2

• Health care professional with a master’s degree who can help patients & their families understand the inheritance pattern of a specific medical condition, evaluate the risk, & possibly navigate the path of genetic testing.

Answer 2

GENETIC COUNSELOR

Question 3

Reasons to seek genetic counseling:

Answer 3

i. Family history of abnormal
chromosomes
ii. Elevated risk of single-gene
disease
iii. Family history of multifactorial
disease
iv. Family history of cancer

Question 4

Focuses on assessing & discussing the risk of genetic conditions or birth defects in a pregnancy

Answer 4

PRENATAL GENETIC COUNSELING

Question 5

Focuses on helping individuals understand their risk of developing certain genetic conditions that typically manifest in adulthood (cardiac, neurologic, & hematologic conditions)

Answer 5

GENETIC COUNSELING FOR ADULT-ONSET DISEASES

Question 6

Medical tests that analyze an individual’s DNA to identify changes in specific genes/chromosomes

Answer 6

GENETIC TEST

Question 7

GENETIC TESTS THROUGH HUMAN
LIFE CYCLE

Answer 7

1) Preconception and Prenatal
2) Newborns
3) Children
4) Adults
5) Posthumous

Question 7

• “GAMETE DONOR SELECTION
  BASED ON CALCULATIONS”
• Computer program that predicts the results of meiosis in the gametes of an individual
• Analyzes possible gamete phenotypes
  of the “recipient” (presumably a woman) & a “plurality of donors” (presumably men), considering penetrance & epistasis
• “Hypothetical offspring”  Also detects if potential parents are
  close blood relatives

Answer 7

PRECONCEPTION AND PRENATAL

Question 7

• Sperm are labeled with fluorescent
  markers: X-bearing sperm cells glow
  more intensely than Y-bearing sperm
  because the X chromosome is so much
  larger.
• Sperm are collected & separate them
  into fractions that are enriched for X- bearing or Y-bearing cells, to attempt to
  conceive a girl or a boy, respectively

Answer 7

FLOW CYTOMETRY

Question 8

It identify genetic conditions or
disorders early in life to enable timely medical intervention, treatment, or
management.

Answer 8

GENETIC TESTING FOR NEWBORNS

Question 9

analytical chemistry technique that detects abnormal metabolites

Answer 9

MASS SPECTOMETRY

Question 10

aims to detect certain genetic, metabolic/congenital conditions shortly after birth, even before symptoms become apparent.

Answer 10

DNA TESTING

Question 11

Involves analyzing a child’s DNA to identify genetic variations, mutations, or abnormalities that may be associated with specific medical conditions or
genetic disorders.

Answer 11

GENETIC TESTING FOR NEWBORNS

Question 12

Detects small deletions, duplications, & other CNVs associated with certain
phenotypes.

Answer 12

CHROMOSOMAL MICROARRAY ANALYSIS

Question 13

Diagnoses unrecognized syndromes/ atypical cases; family comparisons
distinguish de novo from inherited
mutations in children.

Answer 13

EXOME SEQUENCING

Question 14

• Genetic testing after death
• Involve examining DNA samples
  obtained during an autopsy, tissue
  preservation, or using stored biological
  samples from the deceased person

Answer 14

POSTHUMOUS GENETIC TESTING

Question 15

• A service that allows individuals to obtain information about their genetic makeup directly from a company w/o involving a health care professional/medical provider

 Marketed directly to customers via television, print advertisements, or the Internet, & the tests can be bought
online or in stores.

Answer 15

DIRECT-TO-CONSUMER GENETIC TESTING

Question 16

Certain Individuals possess a genetic advantage that predisposes them to excel
in specific sports or physical activities.

Answer 16

TEST FOR INBORN ATHLETIC ABILITY

Question 17

Examines an individual’s genetic makeup to
provide personalized dietary recommendations

Answer 17

NUTRIGENETICS TESTING

Question 18

Focus on understanding how an individual’s genetic makeup
influences their for medications

Answer 18

PHARMACOGENETIC & PHARMACOGENOMIC TETSING

Question 19

detects a variant of a single gene that affects drug metabolism

Answer 19

PHARMACOGENETIC TEST

Question 19

detects variants of multiple genes/gene expression patterns that affect drug metabolism

Answer 19

PHARMACOGENOMIC TEST

Question 22

 AKA drug repositioning/drug reprofiling  Process of identifying new therapeutic uses for existing drugs that were originally developed for different indications  Less costly than developing new drugs

Answer 22

DRUG REPURPOSING

Question 22

Delivers working copies of genes to specific cell types or body parts, Typically as part of modified viruses that function as carriers (vectors)

Answer 22

GENE THERAPY

Question 23

Alters the DNA of a gameteor fertilized ovum, so that all cells of the individual have the change & the correction is heritable, passing to offspring

Answer 23

GERMLINE GENE THERAPY

Question 23

Corrects only the cells that an illness affects & is nonheritable, in which the recipient does not pass the genetic correction to offspring, unless the cells that give risetogametes are inadvertently altered

Answer 23

SOMATIC GENE THERSPY

Question 23

COMMON SITES OF SOMATICGENETHERAPHY - Can be genetically altered to secrete proteins into the circulation

Answer 23

endothelium

Question 24

COMMON SITES OF SOMATICGENETHERAPHY - Immature muscle cells given healthy dystrophin genes may treat muscular dystrophy.

Answer 24

MUSCLE

Question 24

COMMON SITES OF SOMATICGENETHERAPHY - To treat certain inborn errors of metabolism, only 5% of the liver's 10 trillion cells need to be genetically altered.

Answer 24

LIVER

Question 24

COMMON SITES OF SOMATICGENETHERAPHY -

Question 25

COMMON SITES OF SOMATICGENETHERAPHY - Gene therapy can reach damaged lungs through an aerosol spray. Enough cells would have to be reached to trat hereditary emphysema (alpha-1-antitrypsin deficiency) or cystic fibrosis

Answer 25

LUNGS

Question 25

COMMON SITES OF SOMATICGENETHERAPHY - Gene therapy can target skin cells to treat certain skin disorders, such as epidermolysis bullosa

Answer 25

SKIN

Question 25

- Cells are altered outside the body & then infused into the bloodstream through a vein

Answer 25

EX VIVO GENE THERAPY

Question 26

COMMON SITES OF SOMATICGENETHERAPHY - "In the living body", the gene & its vector are introduced directly into the body, such as through a catheter inserted & snaked to the appropriate organ

Answer 26

IN VIVO GENE THERAPY

Question 27

amplify specific DNA sequences from a DNA sample, generating large amounts of the target gene for further analysis, manipulation, or delivery into target cells

Answer 27

PCR

Question 27

- Manipulation & combination of DNA from different sources to create new DNA sequences that encode therapeutic genes or their modified versions.

Answer 27

RECOMBINANT DNA TECHNOLOGIES

Question 27

Had severe combined immune deficiency due to adenosise deaminase (ADA) deficiency

Answer 27

ASHANTI ("ASHI") DESILVA

Question 27

 Had ornithine transcarbamylase (OTC) deficiency & could not make a liver enzyme required to break down dietary proteins  Trillion adenoviruses carried functional human OTC genes through a tube into his liver  Viruses entered not only the hepatocytes as intended, but also macrophages that alert immune system

Answer 27

JESSE GELSINGER

Question 28

 Not only delivers a gene to a specific part of the genome, but can replace a gene, remove a gene, or add a gene, & do so in multiple places or insert, correct, or delete multiple genes  Can be combined with genome sequencing to engineer an animal model of a family's inherited disease, to refine diagnosis & reveal how the symptoms arise (family with thoracic aortic aneurysm & dissection)

Answer 28

CRISPR-CAS9 IN DIAGNOSIS AND TREATMENT

Question 28

- Reactivating the quiescent globin genes can treat the disease - Use of induced pluripotent stem cells (iPS cells)→ CRISPR-Cas9 replaces 1sickle cell mutation with a wild type of the copy of the beta globin gene - Use CRISPR-Cas9 to silence a gene that normally switches fetal hemoglobin production off after birth

Answer 28

SICKLE CELL DISEASE

Question 28

- Enzyme glucocerebrosidase is deficient or absent - Due to little/no enzyme: buildup of substrates lysosomes swell → bursting cells - Symptoms: enlarged spleen & liver, bone pain, & deficiencies of blood cells - Variable in age of onset, severity of symptoms, & rate of progression

Answer 28

TYPE 1 GAUCHER DISEASE