Ethics and Genetics

Question 1

What is genetic exceptionalism?

Answer 1

The belief that genetic information is special and must therefore be treated differently from other types of medical information.

Due to the fact that this information:

• Is predictive
• Has implications beyond the individual
• Can uniquely identify an individual

Question 2

What is the association between genetics and race?

Answer 2

• Many diseases/alleles are ethnically specific
• “Racial profiling” can now be done using Principal Component Analysis (PCA).
• Can be used to justify rights/claims as an American Indian (scholarships, casino rights)

Question 3

What does the New York Civil Rights Law say regarding genetic testing?

Answer 3

• Researchers cannot perform a genetic test on a biological sample taken from an individual without prior written informed consent.
• The information cannot be disclosed without written informed consent of the person

Question 4

What is genetic discrimination?

Answer 4

Discrimination against an individual or members of their family soley because of real or perceived genetic differences.

Question 5

What forms of genetic discrimination are covered by law?

Answer 5

Health insurance and employment.

Question 6

What is GINA?

Answer 6

The Genetic Information Non-Discriminatory Act.

Protects against genetic discrimination for health insurance and employment.

Note: Employment provisions do not apply to employers with fewer than 15 employees!

Question 7

What are some of the reasons people have been denied life insurance based off positive genetic tests?

Answer 7

• Long QT (USA)
• Breast cancer genes (USA)
• Tuberous sclerosis (UK)
• Cardiomyopathy (UK)

Question 8

What has been on the rise as a result of patients’ need for genetic privacy?

Answer 8

Direct-to-consumer marketing (DNA Direct, Pathway Genomics, Counsyl).

Patients often will apply for these under a pseudonym.

Problem is that patients may not always understand information properly, is not provided to their PCP.

Question 9

What does the physician’s duty to warn entail?

Answer 9

• Must inform patient of genetic component of disease and risk to family.
• Must document in note that patient was informed.
• Thus, the physician has the duty to inform the patient, NOT the patient’s family.

Question 10

What is gene patenting and what are the current laws on this practice?

Answer 10

The controversial legal practice of patenting a newly discovered gene. It allows unique segments of DNA, which perhaps code for a certain disease or a certain protein, to be owned by an individual or corporation.

The US Supreme Court ruled (2013) that DNA cannot be patented, although cDNA can.

Question 11

What are the problems with gene patent monopolies?

Answer 11

• High price
• Little incentive to improve test
• Slow turn-around times
• No means of independent confirmation

Question 12

What are the ACMG Guidelines for clinical exome sequencing?

Answer 12

57 genes - which have effective medical treatment - require mandatory reporting to a clinician, regardless of patient age