Cell Biology Lecture 30: Genetic Testing

(Genetic Counselor) What is a genetic counselor?

Health professional trained in genetics and counseling

(Genetic Counselor) Where can genetic counselors be found?

1. Laboratories

2. Industry

3. Clinics

(Genetic Counselor) What are the roles of Genetic Counselors?

1. Educate patients/families

2. Facilitate decision making

3. Aid in adjustment to genetic disease

(Genetic Counselor) Can genetic counselors provide physical examinations?

No

(Genetic Testing) What does genetic testing analyze?

1. Chromosomes

2. Genes

3. Gene products

(Genetic Testing) What is genetic testing used to determine?

Whether a genetic alteration related to a disease or condition is present

(Genetic Testing) Are all genetic conditions inherited?

No

(Genetic Testing) Which classifications of genetic testing are screenings?

1. Newborn

2. Carrier

(Genetic Testing) Which classifications of genetic testing are testings?

1. Prenatal

2. Diagnostic

3. Predictive

(Genetic Testing) In which states are newborn screenings offered in?

All states

(Genetic Testing) How many metabolic, endocrine, and hematologic genetic conditions are newborn screenings used for?

50+

(Genetic Testing) In only where does newborn screening screen for disorders?

Where treatment is available

(Genetic Testing) When is newborn screening designed to detect conditions?

Prior to onset of symptoms

(Genetic Testing) What issues arises with newborn screening?

1. Pre-maturity

2. Poor sample handling

(Genetic Testing) What disorders does carrier screening screen for?

Recessive disorders

(Genetic Testing) Do carrier screenings screen for all recessive disorders?

No

(Genetic Testing) What are carrier screenings based on?

Ethnicity

(Genetic Testing) Are the results of carrier screenings always informative?

No

(Genetic Testing) If given a negative result in carrier screening, does it completely determine carrier status?

No

(Genetic Testing) What are the types of prenatal testing?

1. Prenatal screening

2. Prenatal diagnosis

(Genetic Testing) What are the types of prenatal screening?

1. Composite first trimester screening

2. Prenatal cell-free DNA screening

3. Quad screen

(Genetic Testing) What are the types of prenatal diagnosis?

1. Chorionic Villus Sampling (CVS)

2. Aminocentesis

(Genetic Testing) What are the indications of conditions for prenatal testing?

1. Familial pathogenic variants

2. Aneuploidy

3. Abnormal ultrasound findings

(Genetic Testing) What does diagnostic testing screen for?

Symptomatic individuals

(Genetic Testing) What is used to screen for Marfan syndrome?

Diagnostic testing

(Genetic Testing) What is the function of diagnostic testing?

Confirm or rule out diagnosis

(Genetic Testing) What is used to screen hereditary cancer syndromes?

Predictive testing

(Genetic Testing) What are the types of genetic testing?

1. Biochemical

2. Chromosomal

3. DNA studies

(Genetic Testing) What is biochemical testing used to test?

Inborn errors of metabolism

(Genetic Testing) What is the main target of biochemical testing?

Enzymes

(Genetic Testing) What is biochemical testing performed on?

1. Blood

2. Urine

3. Spinal Fluid

4. Tissue

(Genetic Testing) What is used to test for Tay Sachs disease?

Biochemical Testing

(Genetic Testing) What are the types of chromosomal testing?

1. Karyotype

2. Fluorescence In-Situ Hybridization (FISH)

3. Microarray

(Genetic Testing) What is karyotype?

Number and structure of chromosomes

(Genetic Testing) What are the centromere and telomere probes used for in FISH?

Locating specific DNA sequences

(Genetic Testing) What does microarray detect?

1. Chromosome imbalance

2. Microdeletions/microduplications

(Genetic Testing) In what resolution does microarray detect chromosome imbalance?

Highest available

(Genetic Testing) Can microarrays detect single gene disorders?

No

(Genetic Testing) What does SNP microarray incorporate across the genome?

Single nucleotide polymorphisms

(Genetic Testing) What does DNA studies test for?

Single gene disorders

(Genetic Testing) What are the types of DNA studies?

1. Direct

2. Indirect

3. Mitochondrial DNA testing

(Genetic Testing) What is used in direct DNA studies?

1. Sequencing

2. PCR

3. Deletion/duplication analysis

4. Whole exome/genome sequencing

(Genetic Testing) What is used in indirect DNA studies?

Linkage analysis

(Genetic Testing) How many genes do mitochondria have in its own separte genome?

37 gene

(Genetic Testing Issues) What are the main issues with genetic testing

1. Cost

2. Accessibility

3. Education

(Genetic Testing Issues) What are the possible results of genetic testing?

1. Positive

2. Negative

3. Variant of uncertain significance

4. Incidental findings

(Genetic Testing Issues) Which ethical principles have issues arise in genetic testing?

1. Beneficence

2. Justice

3. Autonomy

4. Non-maleficence

(Genetic Testing Issues) What are the legal/social concerns of genetic testing?

1. Right to know vs. right not to know

2. Discrimination

(Genetic Testing Issues) What is the law that protects from discrimination?

Genetic Information Nondiscrimination Act (GINA)

(Genetic Testing Issues) What genetic information is the GINA law based on?

1. Family history

2. Genetic testing

(Genetic Testing Issues) What does GINA protect?

1. Health insurance

2. Employment (Non-military)

(Genetic Testing Issues) Does GINA apply to the military as an employer?

No

(Genetic Testing Issues) What does GINA not protect?

1. Life insurance

2. Long term care/disability insurance