[UNFINISHED] Genetic Testing, Gene Therapy, & Prospects in Molecular Medicine

Cell Bio Exam 3

Genetic Counselor

Professional that educations patients/families about genetics, genetic testing, prognosis, and helps with decisions/adjustments to genetic diseases

False

(T/F) All genetic conditions are inherited.

Genetic Testing

Analysis of genome and gene products to determine if a genetic alteration related to a disease/condition is present

False, because carriers are generally not affected

(T/F) All recessive disorders are usually screened for.

Hemoglobin electrophoresis, Ashkenazi Jewish panel, Cystic fibrosis - some populations are higher risk

What are some ethnicity-based screenings?

True

(T/F) Genetic testing can’t accurately discern between negative and carrier status.

Diagnostic testing

Type of testing used for symptomatic individuals to confirm/rule out a diagnosis

Predictive testing

Type of testing used to search for hereditary cancer syndromes

Biochemical testing

Test type that studies for enzyme activity and absence using blood, urine, or spinal fluid

PCR, deletion/duplication analysis, whole exome/genome sequencing

What are the forms of direct DNA studying?

True

(T/F) Linkage analysis is an indirect form of DNA study.

Cost, accessibility/availability (insurance), education, and ethical issues

What are four issues with genetic testing?

GINA

What is the law that protects from discrimination based on genetic information?

False

(T/F) Under GINA, health insurance companies or employers may terminate you/your policy based on your genetic “risk.”

False

(T/F) GINA protections apply in the military.

False

(T/F) GINA protections apply for those applying for new life insurance policies or disability insurance.

Inserting normal gene into host genome via virus so the body produces normal proteins

What is the gist of how gene therapy works?

Lumacaftor and Ivacaftor

What are two successful gene therapies for Cystic Fibrosis?

Can’t target specific area/organ or cross blood/brain barrier

What are some fallbacks for gene therapy?

Determines if you have an abnormal reaction to a medicine

What is the function of pharmacogenetics?

High detection rate, low false positives, high accuracy, low cost

What are pros. of prenatal DNA screening?

Lower predictive value for rare conditions, not diagnostic, can’t discover new diseases, questionable ethics of universal screening

What are some cons. of prenatal DNA screening?

False, non-coding regions make up 98% of the genome and are important!

(T/F) Whole exome sequencing is preferred over entire genome sequencing.

Who analyzes the data, how it is stored, non-diagnostic “associations,” and our limited current understandings

What are some concerns re: whole genome sequencing?