20.04.05 Direct to consumer testing

Question 1

What is direct to consumer testing

Answer 1

• Direct access to home DNA testing without a clinical referral or follow-up
• Used to predict health, carrier status for common traits, confirm kinship or get information on ancestry.

Question 2

What is the US CLIA (1988) act

Answer 2

The legal act that regulates clinical laboratories in the US.

Question 3

Where does the FDA (US Food and Drug Administration) act

Answer 3

Marketing of consumer products not the reliability of the results (done by CLIA)

Question 4

Examples of companies offering DTC

Answer 4

• US= Myriad, 23&Me, Veritas Genetics

- Prague= Futura Genetics

Question 5

What is a dispositional health test

Answer 5

Offer an absolute lifetime risk/ relative risk of an individual developing a condition compared to the general population (e.g. diabetes, heart disease, drug sensitivities- warfarin)

Question 6

What is nutrigenetics

Answer 6

• Study of the influence of genetic variability between individuals that accounts for the variants in health status and disease risk.
• e.g. Phenylketonuria- low phenylalanine diet at birth ameliorates phenotype of severe cognitive impairment.

Question 7

What is nutrigenomics

Answer 7

Study of the interactions between dietary components and the genome and the resulting changes in proteins and other metabolites that affect gene expression. Generally not validated for clinical use.

Question 8

What are genetic matching tests

Answer 8

Testing of future biological parents to determine the risk of transmission of shared variants to their descendants.

Question 9

Law around paternity testing

Answer 9

• Human tissue act section 45 (consent) suggests it is illegal to do this without potential father’s knowledge and consent.
• Exception is for children born since 2003 where father’s name is on child’s birth certificate

Question 10

What is a kinship test

Answer 10

-Test to determine a genetic relationship (sibling, grandparents, twin analysis, maternity/paternity)

Question 11

What is a geneaology test

Answer 11

-Tests that provide information on an individuals relatedness to a certain ancestor or ancestral group.

Question 12

What three major types of genetic ancestry testing used for genealogy tests

Answer 12

• Y chromosome
• Mitochondrial DNA
• Single nucleotide polymorphism

Question 13

What is an athletic ability test

Answer 13

• Tests that look at inherent capacity to excel at certain sports. Not well validated and often little predictive value.
• e.g. ACE I/D. ACE I/I associated with endurance

Question 14

What is third party interpretation of genetic data

Answer 14

Where companies allow individuals to submit their raw genetic data obtained from DTC for further analysis using bioinformatic analysis of publicly available databases.

Question 15

Issues with third party interpretation of genetic data

Answer 15

• Often lack of informed consent.
• lack of clinical utility
• Lack of appropriate counselling
• Inaccuracy of testing. Need confirming in a clinical laboratory.

Question 16

What 4 ethical considerations of DTC genetic testing

Answer 16

1. Autonomy: respect for the individual and their ability to make decisions with regard to their own health and future.
2. Beneficence: actions intended to benefit the patient or others (lifestyle change)
3. Non-maleficence: actions intended not to harm or bring harm to the patient or others (false reassurance of risk, e.g. no genetic diabetes risk factors but high risk due to lifestyle)
4. Justice: being fair or just to the wider community in terms of the consequences of an action. Inequity of access (only available to people who can afford it)

Question 17

What is the Genetic information nondiscrimination act (GINA)

Answer 17

2008 act in USA that prohibits health insurers from denying coverage or charging premiums to a healthy individual based on genetic predisposition to developing a disease.

Question 18

What legislation is there in UK regarding DTCs to protect consumers

Answer 18

• UK Human Tissue Act 2004: criminalize genetic analysis of human tissue without the consent of the donor
• Data protection law: general obligations of confidentiality applicable to the test results provided to consumers.

Question 19

Before it disbanded what guidelines for DTCs did the UK Human Genetics commission draw up

Answer 19

• Common framework of Principles (2010)
• To promote high standards of consistency in the provision of DTC genetic tests and to safeguard interests of consumers and their families