Exam 3: Personal Genomics

Question 1

OMIM

Answer 1

continuously updated catalog of human genes and genetic disorders and traits (gene-phenotype relationship)

Question 2

Personal Genomics

Answer 2

sequencing and analysis of the genome of an individual

Question 3

in Personal Genomics once the genotypes are known, _

Answer 3

the individual’s genotype can be compared with the published literature to determine likelihood of trait expression and disease risk

Question 4

what role does Personal Genomics play in Personalized Medicine

Answer 4

predictive medicine uses personal genomics when deciding what treatments to use and precision medicine focuses on classifying human disease based on molecular biology

Question 5

reason why sequencing a human-sized genome pricing decreased

Answer 5

high throughput technology came online and insurance companies are now paying making them more accessible

Question 6

examples of the use of predictive and precision medicine include

Answer 6

inherited medical genomics, cancer genomics, and pharmacogenomics

Question 7

what are the key factors in evaluating genetic tests

Answer 7

turnaround time 
specimen type and amount
cannot do genetic tests on everything
ethical issues
rare vs familial

Question 8

evaluating the validity of genetic tests

Answer 8

ability to test accurately and reliably for the genetic variants of interest (false negs/sensitivity and false pos/specificity) and identify or predict accurately and reliably the clinically defined disorder or phenotype of interest. personal and family choices

Question 9

consequence of integrating genomics and everyday care delivery

Answer 9

precision medicine and genome sequencing project that has found 2-4% have an added risk to cancer, heart disease, or another disorder. now a part of routine clinical care to improve pt outcomes

Question 10

in 2013, how has the FDA altered the way that 23andMe does business

Answer 10

the FDA instructed 23andMe that they could not report outcomes with medical relevance unless they had FDA approval

Question 11

“share with swipe”

Answer 11

23andMe customers will be able to share their genetic info with medical researchers via swiping; swipe to share their genetic data as easily as they do their location or contact list

Question 12

prior to 2013, how was 23andMe reporting data

Answer 12

reporting all kinds of genetic associations reported in literature back to clients. FDA said a lot of this information is diagnostic and prognostic and now 23andMe is no longer reporting those types of info and is seeking FDA approval (have yet to get it)

Question 13

dr bittel and his son, according to 23andMe, do not share a Y chromosome. how can this be

Answer 13

be careful about data. they share enough chromosome segments to be father and son

Question 14

what does it mean if 23andMe says you have X% probability of developing a certain trait

Answer 14

of the 2 or 3 million ppl 23andMe have sequenced for a trait, x% of those individuals have a sequence like yours for the trait or for not the trait

Question 15

what is promeathease

Answer 15

an extensive assessment platform. literature system of every variant known based on scientific literature in SNPedia. builds a personal DNA report

Question 16

why is the FDA terrified of 23andMe

Answer 16

23andMe is a privately held personal genomics and biotechnology company which Google invested 3.9 mill into. they are hoarding your personal data. they want your personal information to somehow make money off of it. open a breadth of insurers and pharmaceutical firms that might know about your body than you do

Question 17

polygeneic risk scores

Answer 17

going beyond single nucleotide variant reports onto genetic markers. adding up all the variance you have and comparing it to some known threshold that is associated with the increased risk for a disorder

Question 18

positive clinical relevance to polygeneic risk scores

Answer 18

taking into account genetic markers and environmental forces, physician can use information as a tool for early intervention

Question 19

t/f: you have a greater risk associated with rare pharmacogenomic variants

Answer 19

true a lot of these associated with drug metabolizing enzymes

Question 20

mendelian disease

Answer 20

do not get severe mendelian childhood diseases even though there is strong confidence in having sequenced your genome to prove it. ex 2 recessive copies and do not get disease

Question 21

why has 23andMe yet to clear FDA approval

Answer 21

23andMe was selling kit as a “personal genomics kit” and the fda says any kit intended to cure, mitigate, treat, prevent, or diagnose a disease a “medical device” that needs to be deemed safe and effective and FDA has yet to approve 23andMe

Question 22

how was dna used to identify the golden state killer

Answer 22

by using publically available DNA information uploaded to an open-source website to match a ‘distant relative’ of suspected killer to old crime scene DNA

Question 23

what is the app CHAMP

Answer 23

babies who are born with single-ventricle heart disease and are in the critical inter-stage period between the first and second stages of surgery need optimal monitoring. app allows nearly-instantaneous in-home monitoring and to improve communication during this vulnerable time

Question 24

what is important for any lineage to persist

Answer 24

ability to move and track habitat change geographically or to expand the degree of adaptive versatility

Question 25

A geneticist is interested in whether asthma is caused by a mutation in DS112gene. The geneticist collects DNA from 120 people with asthma and 100 healthy people and sequenced their DNA. She finds that 35 of the people with asthma have a mutation in the DS112gene, and none of the healthy people have a mutation in the DS112gene. What is the target population in this study?

Answer 25

a. the 120 people with asthma (this is the target sample)
b. the 100 healthy people (this is the control or comparison sample)
c. the 35 people with a mutation in their gene
d. all people with asthma (why is this the target population?)

Question 26

The measurements of a distribution with a larger _ will be more spread out.

a. mean
b. variance
c. standard deviation
d. both b and c

Answer 26

d. both b and c -since the two are related

Question 27

In Lubbock, Texas, rainfall and temperature exhibit a significant correlation of -0.7. Which conclusion is correct?

a. There is usually more rainfall when the temperature is high.
b. There is usually more rainfall when the temperature is low.
c. Rainfall is equally likely when the temperature is high or low.

Answer 27

There is usually more rainfall when the temperature is low