8 - PGx Ethics

Why is lack of diversity a problem?

• testing methodology (available platforms geared toward european ancestry)

• race based medicine (patterns leading to generalizations)

• gene differences in different populations

• increased disparity

What is an example of race based medicine?

~70% of african americans are CYP3A5 intermediate or normal metabolizers whille 86% of europeans are CYP3A5 poor metabolizers

• led to tacrolimus labeling wording saying black patients may require higher doses

How does insurance coverage of PGx testing vary?

• not all cover

• if uncovered, only a select view can afford OOP cost

Define biomarker legislation

if diagnosed with cancer, some states require insurance (private, public, or both) to cover PGx testing

Where may access to PGx testing be limited?

• rural areas

• community hospitals vs educational centers

• personnel are limited

What are the methods of consent in PGx testing?

• oral/verbal (requires documentation)

• written/electronic

• state and insurance dependent

• institution dependent

What are the topics covered during consent to PGx testing?

• what is covered on the test and how it relates back to the medications, possible disease state implications

• results can ONLY be used for patients but some inferences can be made

• inheritance

• privacy and data use

What is the recommendation American College of Medical Genetics and Genomics (ACMG) for secondary findings?

• lists recommended genes that should be reported when found during a clinical exome/genome sequencing

• may be unrelated to testing indication but have medical value for patient care

• patients have the right to decline secondary findings from being reported

• sequencing ordered for only PGx testing does not have to report secondary findings

Define the genetic information nondiscrimination act (GINA)?

federal law protecting against:

• genetic discrimination in workplace and health information

• hiring/firing

• health insurance eligibility, cost, coverage, or benefits

What is unprotected by GINA?

• life, disability, long-term care insurance

• business with <15 employees

• health insurance from federal government or military

What can be done with testing data within a healthcare system?

rights & responsibilities requiring storage, use, and stewardship of patient data

• IRB required if research is done using your information

What can be done with testing data with a commercial lab?

consent form gives the lab the rights, typically does not require anyone’s approval to do research

What are considerations for genetic testing of children?

• lack of individual autonomy - some genetic information can impact child’s life

• maternity/paternity

• benefit must outweigh disadvantages (esp. in disease diagnositcs)

• parents can decline but testing is required

• testing should be performed for child’s benefit, not family members

• increased risk of disparity (based on parent’s coverage)

• results need to be portable and able to be used

Define biobanking

• a collection of biological samples and health information

• deidentified

• scientists can use the information how they see fit as designated within the consent form

What are drawbacks of biobanking?

not all are clinical tests, so they are unable to drive clinical care and require repeat testing

What are advantages of biobanking?

• requires consent, which can be withdrawn

• increases genetic research/discovery