Ethics and Genomics

Question 1

Describe Genetics

Answer 1

-science of inheritance

Question 2

Describe Genomics

Answer 2

-individual sequence of chromosomes

Question 3

What are the risks of genetic testing

Answer 3

• reveal info about relatives
• psychosocial risks
• info may be stigmatizing

Question 4

What are the Challenges in Genetic Testing

Answer 4

• automatic next generation sequencing methods have both false positives and negatives
• many detected variants are categorized as “of unknown significance”
• interpretation depends on prior probability of dz (eg if prevalence of dz is low -> increased chance of false positives)

Question 5

What is the Criteria for Clinical Genetic Tests

Answer 5

• analytic validity (must be reliable/accurate)
• clinical validity (must predict presence/absence of clinical dz/condition)
• clinical utility (leads to net health benefit)

Question 6

List the Utilization Categories of Genetic Testing

Answer 6

• asymptomatic pts
• symptomatic pts for dx
• guiding therapeutic choices
• specific concerns in children
• direct consumer testing
• ancestry testing

Question 7

What are some of the Targeted Screenings for Susceptibility to Adult Onset Dz

Answer 7

• BRCA
• HNPCC
• hemochromatosis

Question 8

Describe Pharmogenetics

Answer 8

-testing that identifies certain pts w/ an increased risk of serious adverse rxn/lack of effectiveness for specific meds

Question 9

How should a Clinician go about Discussing Results of Genomic Testing

Answer 9

• understand limitations of testing/clinical implications of results
• consult w/ genetic counselor maybe helpful (acknowledge personal limitations)
• be sure to assess pt understanding and be ready to answer questions

Question 10

Describe Nondirective Genetic Counseling

Answer 10

• provide info in unbiased manner
• recommended method of genetic counseling
• presents all sides on issue/risk factor/dz
• do NOT attempt to persuade a pt for/against testing (likely will give some evidence based guidance)
• balance pt’s autonomy w/ beneficence

Question 11

When is Overriding Confidentiality Justified when it Comes to Genetic Testing

Answer 11

• no definitive guidelines

- got to balance right of pt confidentiality/HIPPA regulation/beneficence/non-maleficence of relatives at increased risk

Question 12

What is the Best Way to approach Confidentiality when it Comes to Genetic Testing

Answer 12

• be sure to discuss importance of disclosure of results prior to testing
• recommend disclosure of positive results to relatives IF info would lead to significant change in medical care
• offer to disclose results for them if necessary
• last resort consider overriding their decision
• respect that relatives may/may not want to know results

Question 13

What does GINA: Genetic Information Nondiscrimination Act of 2008 cover

Answer 13

• prohibits health insurers from using person’s genetic info to set eligibility/premiums
• prohibits employers from using person’s genetic info to make employment decisions
• doesn’t apply to life, disability, or long term health INS plans

Question 14

When are there Opportunities for Genetic Counseling

Answer 14

• premarital
• preconception
• prenatal
• childhood
• adulthood

Question 15

Describe Genetic Screening Tests

Answer 15

• applied to large populations
• may identify increased risk/susceptibility (doesn’t dx certain conditions)
• may be used to determine higher than average risk in a person
• must have effective means to either prevent or tx illness/condition
• population being screening MUST be educated on meaning of positive/negative outcomes

Question 16

Describe Diagnostic Genetic Testing

Answer 16

-offered to persons/families at higher than average risk of dz

Question 17

What is the only Genetic Test USPSTF gives a Grade “B” or higher to

Answer 17

-BRCA 1 and 2 in pts w/ family members w/ breast, ovarian, tubal, or peritoneal CA