Dr. Bittle Test Three

Question 1

Personal Genomics?

Answer 1

Science of sequencing and art of analysis of genome for health related decisions

Question 2

Predictive medicine?

Answer 2

Using info from sequencing to aid in the decision of what medical treatments are appropriate for the patient

Question 3

Precision medicine?

Answer 3

Human disease based on molecular biology. Uses informatics to prevent or treat disease by taking your genetic info and adding it to your clinical information.

Question 4

Genome Testing?

Answer 4

Analysis of DNA to identify changes in sequence or expression levels

Question 5

Diagnostic genetic testing?

Answer 5

Identifies if an individual has a disease or not. Can’t determine severity or age of onset. Confirmatory test for symptomatic individual.

Question 6

Predictive genetic testing?

Answer 6

Determines if person is at an increased risk for a disease. Not definitive as disease is related to environment as well. Example of disease that can be predicted are breast cancer and colon cancer

Question 7

Screening genetic testing?

Answer 7

Newborn screening and prenatal screening are examples

Performed on asymptomatic populations to determine if they need a more definitive testing

Question 8

Pharmacogenomics?

Answer 8

Identifies variations in genetic makeup to determine if a drug will work for a patient and if so what dose. Warfrin dosing. Type of precision testing.

Question 9

Predictive? (Whole genome and whole exome)

Answer 9

Whole genome and whole exome of germline DNA examines entire genome or exome to discover alterations that might cause disease. Used for complex diagnostic cases

Question 10

Diagnostic? (Tumor analysis)

Answer 10

Examines genetic markers in a tumor to determine which genetic alterations drive growth

Question 11

Clinical utility?

Answer 11

Value of the test for determining treatment patient management and family planning

Question 12

Personal utility?

Answer 12

Value of the test for personal and family choices

Question 13

What is GeneDx?

Answer 13

Leader in genomics in rare and ultra rare genetic diseases, physician has to order and samples have to come from CLIA lab.

Question 14

Where do genetic tests come from?

Answer 14

NIH sponsored website. Genetic Testing Registry. It compiles all genetic tests that have been clinically vetted and tells you where you can find places to get them done. Gives information such as FP, FN, validity of the lab and tests

Question 15

Where do genetic tests come from?

Answer 15

First start off looking for predictive markers and develop a risk profile. Identify small variants and figure out how to weigh them appropriately

Question 16

What kind of genetic assessment is 23 and Me or Ancestry.com?

Answer 16

Predictive
Snip Tests Not exome or genome sequencing
Looks for a million variants across genome that are chosen because they have clinical importance or known to be highly variable.

Question 17

Promethease?

Answer 17

Analyze DNA results from 23 and Me more in depth, they link to SNPedia which accumulates every nucleotide variant in the genome and relate it to the phenotype

Question 18

In general a woman who is BRCA1 positive has what increased chance of developing breast cancer by 70?

Answer 18

60% increased risk

Question 19

OMIM?

Answer 19

Website which gives you the variants associated with a gene

Question 20

What is the Color test?

Answer 20

They test for BRCA1 and BRCA2 variants. Only a physician can order the tests and they are to be reviewed with a physician.

Question 21

What is Cologuard?

Answer 21

At home colon cancer screening test, predictive does not definitively say you have cancer, requires further testing. Look for alterations in methylation in genes that are important for colon cancer. MH1 2 and 3 highly methylated are associated with colon cancer.

Question 22

Novel high accuracy blood test screening?

Answer 22

From blood sample can identify small percentage of DNA that is associated with 20 different types of cancer

Question 23

Ethical issues in Variant calling and interpretation?

Answer 23

Risk prediction may not be worth it could be freaked out so much its not worth it.
Average person most likely won’t know what to do with their information
How is the genetic information protected