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CYTO > FINAL LEC 3: Genetic Counseling, Testing, and Treatment > Flashcards

FINAL LEC 3: Genetic Counseling, Testing, and Treatment Flashcards

1
Q

Specialized healthcare service provided by professionals known as genetic counselors Primary aim: o To help individuals and families understand and make informed decisions about genetic conditions that may affect them or their offspring

A

GENETIC COUNSELING

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2
Q
  • 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
  • Other professionals who can provide counseling: physicians, nurse, social workers, & PhD geneticists
A

GENETIC COUNSELOR

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3
Q

____________ coined the term “genetic counseling” and what year

A

Sheldon C. Reed, 1947

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4
Q

First class of specially trained genetic counselors graduated from Sarah Lawrence College in Bronxville, New York

A

1971

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5
Q

33 programs in the United States offer a master’s degree in genetic counseling, and many other countries have programs

A

2018

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6
Q

University of the Philippines Manila offers Master of Science in Genetic Counseling (a 2-year degree program)

A

Philippines

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7
Q

Reasons to seek genetic counselling:

A

Family history of abnormal chromosomes
Elevated risk of single-gene disease Family history of multifactorial disease
Family history of cancer

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8
Q

Genetic counselling sessions:

A

Family history
Pedigree construction
Information provided on specific diseases, modes of inheritance, tests to identify at-risk family members Testing arranged, discussion of results and treatments
Links to support group, appropriate services, clinical trials follow-up contact

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9
Q

focuses on assessing and discussing the risk of genetic conditions or birth defects in a pregnancy

A

PARENTAL GENETIC COUNSELING

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10
Q

-Focuses on helping individuals understand their risk of developing certain genetic conditions that typically manifest in adulthood (cardiac, neurologic, & hematologic conditions)
-Predictive tests are introducing the “genetically unwell” or those “premanifest” state – people with mutant genes but no symptoms (yet)

A

GENETIC COUNSELING FOR ADULT-ONSET DISEASES

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11
Q

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

A

GENETIC TESTS

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12
Q

GENETIC TESTS PROVIDE VIEWS OF HUMAN GENOMES AT SEVERAL LEVELS:

A
  1. May detect single-base/copy number variants in individual genes
  2. May display/identify abnormal chromosomes/ chromosome numbers
  3. May assess variability across the genome
  4. May determine the entire protein-encoding part of the genome (exome) or the whole genome
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13
Q

“Gamete donor selection based on calculation” o Computer program that predicts the results of meiosis in the gametes of an individual
o Analyzes possible gamete phenotypes of the “recipient” (presumably a woman) & a “plurality of donors” (presumably men), considering penetrance and epistasis
o “Hypothetical offspring” o Also detects if potential parents are close blood relatives

A

Preconception and Prenatal

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14
Q

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

A

Flow Cytometry

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15
Q

Enriches for X- or Y-bearing sperm, then intrauterine insemination or in vitro fertilization

A

Sperm selection

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16
Q

Sequences genes, exomes, and genomes and examines chromosomes of 1 cell of 8-celled embryo conceived in vitro; remaining embryo develops for a few days and is then implanted in the uterus

A

Preimplantation genetic diagnosis and sequencing

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17
Q

Tests DNA and chromosomes of chorionic villus cell

A

Chorionic sampling

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18
Q

Detects small deletion and duplications in archived cells from past unexplained pregnancy losses

A

Rescue karyotyping

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19
Q

Tests cell-free fatal (placental) DNA

A

Noninvasive prenatal diagnosis

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20
Q

Measure levels of biomarkers in pregnant woman’s blood

A

Maternal markers

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21
Q

Tests DNA and chromosomes of amniocytes

A

Amniocentesis

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22
Q

Goal: To identify genetic conditions or disorders early in life to enable timely medical intervention, treatment, or management

A

Newborns

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23
Q

Analytical chemistry technique that detects abnormal metabolites

A

Mass spectrometry

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24
Q

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

A

DNA TESTING

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25
Q

Screen metabolites & DNA in heel stick blood sample for 50-plus actionable conditions

A

SCREENING

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26
Q

Sequence genomes of many newborns to assess clinical value

A

GENOME SEQUENCING

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27
Q

-Involves analyzing a child’s DNA to identify genetic variations, mutations, or abnormalities that may be associated with specific medical conditions or genetic disorders
-Range from single-gene tests that are done because symptoms match those of a known disease, to chromosome tests, to exome & genome sequencing

A

Children

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28
Q

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

A

CHROMOSOMAL MICROARRAY ANALYSIS

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29
Q

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

A

EXOME SEQUENCING

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30
Q

Reasons why adults take single-gene tests: 1. As part of diagnostic workups based on symptoms or other test results
2. To detect increased risk of developing a particular cancer
3. When considering having children, & wonder what traits and illnesses they might pass on

A

Adults

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31
Q

Preconception carrier tests for genetic diseases more prevalent among people of Jewish ancestry

A

Dor Yeshorim program

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32
Q

Tests athletes to identify carriers at risk for symptoms

A

Sickle cell disease

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33
Q

Preconception carrier tests for many single-gene diseases

A

Comprehensive carrier testing

34
Q

Tests for heterozygotes for diseases more prevalent in certain population groups

A

Population carter screen

35
Q

Y chromosome and mitochondrial DNA sequences identify paternal and maternal lineages, these and autosomal markers Identify distant cousins

A

Ancestry testing

36
Q

Copy numbers of short tandem repeats (STR) in crime scene or disaster evidence

A

Forensics testing

37
Q

Identify remains: risk for depression, PTSD: rapid infection diagnosis

A

Miltary

38
Q

BRCA cancers, Alzheimer disease

A

Susceptibility

39
Q

Drug efficacy, adverse effects, and dose

A

Pharmacogenetics

40
Q

Identify genes contributing small degrees to a phenotype

A

Genome-wide association studles

41
Q

Half of a child’s genome comes from the father

A

Paternity

42
Q

Identify gene variants that extremely old people share

A

Centenartans

43
Q
  • Genetic testing after death Involve examining DNA samples obtained during an autopsy, tissue preservation, or using stored biological samples from the deceased person
  • Disease diagnosis: Identify mutations in cells of deceased individuals
  • History: identify remains - Human origins: compare genomes of modern & archaic humans
A

Posthumous

44
Q

-A service that allows individuals to obtain information about their genetic makeup directly from a company w/o involving a healthcare professional/medical provider
- Marketed directly to customers via television, print advertisements, or the internet & the tests can be bought online or in stores

A

DIRECT-TO-CONSUMER (DTC) GENETIC TESTING

45
Q

-Establish quality standards for all laboratory testing, including DTC genetic testing
-Aim to ensure accurate & reliable laboratory testing, regardless of where the testing is performed
-Control genetic testing of body materials for the prevention, diagnosis, or monitoring response to treatment of a disease or health impairment.

A

CLINICAL LABORATORY IMPROVEMENT AMENDMENTS (CLIA) IN THE U.S.

46
Q
  1. Ordering the test 2. Sample collection 3. Sending the sample to the testing company 4. DNA analysis 5. Accessing the results through an online portal/mobile app
A

HOW DTC GENETIC TESTING WORKS

47
Q

Certain individuals possess a genetic advantage that predisposes them to excel in specific sports of physical activities

A

Test for inborn athletic ability

48
Q

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

A

Nutrigenetics testing

49
Q

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

A

Pharmacogenetic & pharmacogenomic testing

50
Q

Procedure
o Customers mail in saliva/cheek brush scrapings that yield DNA
o They will receive list of variants of specific genes (with general physiological functions related to fitness & athletic ability) a few weeks later

A

INBORN ATHLETIC ABILITY

51
Q

o Has an insertion/deletion polymorphism o “I” (insertion) allele: endurance athletes (triathlon athletes, mountaineers)
o “D” (deletion) allele: elite swimmers than other groups & is associated with increased power & strength with training

A

Angiotensin-1-converting enzyme gene (ACE)

52
Q

1 genotype is more common among elite sprinters & another among endurance athletes

A

Alpha-actinin 3 (ACTN3)

53
Q
  • Nutrigenetics is the study of how genes determine the effects nutrients have on the body and health
  • Offered by websites, along with general questionnaires about diet, exercise, & lifestyle habits
    -Companies suggest dietary indications – a central issue in the prevention and etiopathogenesis of specific diseases – based on one’s personal genetic background
A

NUTRIGENETICS TESTING

54
Q

People may react differently to the same dose of the same drug, even accounting for weight, gender, and age

A

PHARMACOGENETIC TEST & PHARMACOGENOMIC TEST

55
Q

Detects a variant of a single gene that affects drug metabolism

A

Pharmacogenetic test

56
Q

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

A

Pharmacogenomic test

57
Q

-An innovative medical approach that involves using genetic material to treat/prevent diseases
- Goal: to correct/modify defective genes within an individual’s cells to restore normal cellular function/provide therapeutic benefits

A

GENETIC TREATMENT

58
Q
  1. Removing an affected body part 2. Replacing an affected body part/biochemical with a material from a donor
  2. Delivering pure, human proteins derived recombinant DNA technology
  3. Refolding correctly a misfolded protein 5. Blocking gene expression (gene silencing) 6. Using gene therapy to add wild type alleles w/o removing mutant alleles
  4. Using gene & genome editing to replace, delete or add alleles
  5. Drugs
A

TREATMENTS FOR SINGLE-GENE DISEASES:

59
Q

Medicines are chemicals or compounds used to cure, halt, or prevent disease; ease symptoms; or help in the diagnosis of illness.

A

DRUGS

60
Q

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

A

Type I Gaucher disease

61
Q

Recombinant human enzyme infused to compensate for deficient or absent enzyme

A

Enzyme replacement therapy

62
Q

Oral drug that reduces level of substrate so enzyme can function more effectively

A

Substrate reduction therapy

63
Q

Oral drug that binds to patient’s misfolded protein, restoring protein

A

Pharmacological therapy

64
Q

-AKA drug repositioning / drug profiling
-Process of identifying new therapeutic uses for existing drugs that were originally developed for different indications
-Less costly than developing new drugs
Examples:
o A failed cancer drug that helps children who have form of progeria (accelerated aging condition)
o Drug that treats erectile dysfunction by increasing blood flow to the penis improves leg muscle function in boys who have Becker muscular dystrophy

A

DRUG REPURPOSING

65
Q
  • Delivers working copies of genes to specific cell types or body parts, typically as parts of modified viruses that function as carriers (vectors)
  • May require a single or a few treatments
    1. Gene addition
    2. Gene editing
    3. Gene silencing
    4. Stem cell therapy
A

GENE THERAPY

66
Q

-Alters the DNA of a gamete or fertilized ovum, so that all cells of the individual have the change and the correction is heritable, passing to offspring
- Not being done in humans

A

GERMLINE GENE THERAPY

67
Q

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

A

SOMATIC GENE THERAPY

68
Q

Can be genetically altered to secrete proteins into the circulation

A

ENDOTHELIUM

69
Q

Immature muscle cells (myoblasts) given healthy dystrophin genes may treat muscular dystrophy

A

MUSCLE

70
Q

To treat certain inborn errors of metabolism, only 5% of the liver’s 10 trillion cells need to be genetically altered

A

LIVER

71
Q

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

A

LUNGS

72
Q

Gene therapy can target skin cells to treat certain skin disorders, such as epidermolysis bullosa

A

SKIN

73
Q

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

A

EX VIVO GENE THERAPY

74
Q

“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

A

IN VIVO GENE THERAPY

75
Q

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

A

PCR

76
Q

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

A

RECOMBINANT DNA TECHNOLOGIES

77
Q

Restriction enzymes, CRISPR-Cas9

A

OTHER TECHNIQUES THAT CUT DNA

78
Q
  • Usually delivers the healing DNA with other DNA (mobile) - Uses the following as carriers: 1. Viral vectors a. Adeno-associated viruses (AAV) b. Lentiviruses c. Adenoviruses d. Retroviruses
    2. Liposomes 3. Polymer-based vectors 4. Naked DNA
A

GENE TRANSFER

79
Q

INITIAL SUCCESS (1980s)

o Had severe combined immune deficiency due to adenosise deaminase (ADA) deficiency
o Began enzyme replacement therapy, but within 2 years it stopped working
o Undergone gene therapy that would give her WBCs functional ADA genes

A

Ashanti (“Ashi”) Desilva

80
Q

SETBACK (1999)

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

A

Jesse Gelsinger

81
Q
  • 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)
A

CRISPR-Cas9 IN DIAGNOSIS & TREATMENT

82
Q

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

A

Sickle cell disease

CYTO (3 decks)

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