W9 L1 Tues direct to consumer genomic

Question 1

Why shouldn’t we sell our DNA

Answer 1

-It is your own DNA
-Imply genetic determinism: your genome dictate everything about you (not true)

Question 2

Reason for buying these product

Answer 2

-Lack of access to family medical history (adoption, donor, uncertain paternity)
-Finding lost relative
-Future planning (late onset Mendelian disorder)
-Curiostiy, interest

Question 3

Categories of DTC product

Answer 3

1/ lifestyle testing (athletic, compatibility and pet breed)
2/health related testing (risk and prevention)
3/ancestry testing

Question 4

How DNA are analysed

Answer 4

-Whole genome are expensive to sequences and annotated for interpretation
-SNP genotyping rather than whole genome sequencing

Question 5

Can the companies be trusted to interpret the data appropriately

Answer 5

-Compare the detection risk of 3 company on 3 different disease
-Each company interpretation did not match up with each other
=> US food and drug administration ban them from giving health report, only allow for ancestry test and raw data, user have to follow the data on their own

Question 6

What has happened in Direct-To-Consumer genomics testing recently

Answer 6

-Explode of user and interest.
-DTC have reached a lot of people, even more than governmental biobank

Question 7

AUS DTC

Answer 7

• Accredited test have evidence based interpretation, ethical & governace and have medical oversight VS unaccredited test
  -geared toward more caution and less capitalism

Question 8

Ethical issue of DTC

Answer 8

-Access
-useful/ benefit
-consent
-ethnic biases
-private ownership of their own DNA

Question 9

Promethease company

Answer 9

• Promethease lets you take matters into your own hands and analyse your genotypes against pretty much any published association in the literature.
• Some people say they are irresponsible; some people say they are fully within their rights.
• Very much a personal choice

Question 10

23andMe

Answer 10

Some health companies are dubious, but the main players are backed by solid science.
* 23andme used to offer complex predictions (“risk scores”) on over 250 conditions; after some trouble with the law they now offer medical advice on ~40 conditions (in the USA)

Question 11

Conveying uncertainty and certainty

Answer 11

-health risk report can be vague so allow user to choose to receive risk report or not

Question 12

Ancestry testing and cousins

Answer 12

• One of the biggest draws of all ancestry testing is identifying new relatives.
• Can be done directly through DTC service providers, or on other third party websites.

Question 13

How are genetic relatives identified

Answer 13

• Relative matching makes use of identity by descent: chunks of chromosomes that are identical across individuals due to recent common ancestry (not broken down by recombination!)
  -Some databases report not only the % of the genome in common, but the genomic location of the match(es) and the name of your new cousin

Question 14

How easy is it to find cousin through database

Answer 14

-depend on how big the database is
-easier to find more distantly related cousin than closely related
-but possibility of false positive
-White American have better chance of finding due to better database

Question 15

Investigative genetic genealogy:the first case

Answer 15

-40 Yo cold case in the. USA with murderes and rape
-police use DNA sample from crime scene
, ID their third degree cousin
-mapping and narrowing down candidate, test the candidate gene

Question 16

Investigative genetic genealogy technology for crime solving

Answer 16

• GEDmatch and FamilyTreeDNA have been used to solve hundreds of cold cases since then.
• Consent for these samples for law enforcement use remains murky.

Question 17

Database for forensic

Answer 17

-US law enforcement agency: combined DNA index system

Question 18

Genome and insurance

Answer 18

• Until mid-2019, Australian life insurance providers legally could (and would) demand customers disclose any genetic testing results when purchasing life insurance.
• Current industry-regulated moratorium on using this information will expire in 2024
• Forcing disclosure of genetic tests for life insurance purposes makes people less likely to get tested within health or research contexts

Question 19

Genetic discrimination

Answer 19

• In many countries, laws prevent discrimination on the basis of genetics for situations like employment, education, etc.
• In Australia: multiple reports of individuals being denied life insurance on the basis of DNA despite taking preventive measures

Question 20

Ownership and value of data

Answer 20

-when these company are bought , it can be use for other’s gain
Safeguarding genomic privacy and balancing personal vs social benefit are two of the biggest challenges facing DTC genomics and the human genetics community at large