Genetics - Lecture 16

Front 1

1. Genomic Medicine

2. Genetic Medicine

Back 1

1. Use of information from genomes and their derivatives to guide medical decision making
*key component of personalized medicine

2. Use of knowledge about single genese to improve the diagnosis and treatment of a single gene disorders

Front 2

1. What is the hypothesis of using genomic medicine?

2. Genomic medicine represents a shift away from a _____ approach to treatment

Back 2

1. Hypothesis is that using genomic information will lead to more informed and effective patient care

2. "one size fits all"

Front 3

What are the tools needed to practice personalized medicine?

Back 3

1. - family health history
-physical examination
-genomic (sequence) info
-clinical history incorporating environmental info (smoking, diet)
-clinical decision support for complex and predictive info

Front 4

1. Massively parallel sequencing

2. Why is it better than Sanger?

Back 4

1. - entire process is automated
-DNA is bound to solid support
-multiple samples can be simulatenously analyzed using DNA bar codes (can identify which patient the DNA is coming from)

2. It can analyze many sequences of DNA at once , costs less

Front 5

1. Genomic Medicine

2. Genetic Medicine

Back 5

1. Use of information from genomes and their derivatives to guide medical decision making
*key component of personalized medicine

2. Use of knowledge about single genese to improve the diagnosis and treatment of a single gene disorders

Front 6

1. Genomic testing can generate the following information:

Back 6

- Predicted genetic risks associated with Mendelian diseases
- Individual drug risks, tolerances, effective doses
- SNPs associated with diseases
- Novel mutations
- Carrier status for Mendelian disorders

Front 7

1. What is the hypothesis of using genomic medicine?

2. Genomic medicine represents a shift away from a _____ approach to treatment

Back 7

1. Hypothesis is that using genomic information will lead to more informed and effective patient care

2. "one size fits all"

Front 8

Ethical issues of genomic medicine:

Back 8

- Is informed consent from whole genome sequencing even possible?

- Interpretationg of data for clincal problems - how should patients and their relatives be informed of results?

- Reporting of non-medical data (ancestry, paternity, "recreational" genes)

- Long-term storage of information (who should have access?)

Front 9

What are the tools needed to practice personalized medicine?

Back 9

1. - family health history
-physical examination
-genomic (sequence) info
-clinical history incorporating environmental info (smoking, diet)
-clinical decision support for complex and predictive info

Front 10

Practical issues of genomic medicine:

Back 10

-need for expensive equipment, experiences, bioinformatics
-cost per whole genome sequence
-don't understand biology of SNPs
-problem of pre-symptomatic diagnosis of adult onset disorders
-we don't understand effects of gene-gene and gene-environmental issues

Front 11

1. Massively parallel sequencing

2. Why is it better than Sanger?

Back 11

1. - entire process is automated
-DNA is bound to solid support
-multiple samples can be simulatenously analyzed using DNA bar codes (can identify which patient the DNA is coming from)

2. It can analyze many sequences of DNA at once , costs less

Front 12

the ___ is often neglected, but is one of the most cost-effective screens

Back 12

family history

Front 13

1. Genomic testing can generate the following information:

Back 13

- Predicted genetic risks associated with Mendelian diseases
- Individual drug risks, tolerances, effective doses
- SNPs associated with diseases
- Novel mutations
- Carrier status for Mendelian disorders

Front 14

Ethical issues of genomic medicine:

Back 14

- Is informed consent from whole genome sequencing even possible?

- Interpretationg of data for clincal problems - how should patients and their relatives be informed of results?

- Reporting of non-medical data (ancestry, paternity, "recreational" genes)

- Long-term storage of information (who should have access?)

Front 15

it is currently feasible to sequence one person's genome, but it is ____ to apply this on a routine basis to clinical care

Back 15

cost-prohibitive

Front 16

1. Genomic Medicine

2. Genetic Medicine

Back 16

1. Use of information from genomes and their derivatives to guide medical decision making
*key component of personalized medicine

2. Use of knowledge about single genese to improve the diagnosis and treatment of a single gene disorders

Front 17

1. What is the hypothesis of using genomic medicine?

2. Genomic medicine represents a shift away from a _____ approach to treatment

Back 17

1. Hypothesis is that using genomic information will lead to more informed and effective patient care

2. "one size fits all"

Front 18

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Back 18

Blank

Front 19

Practical issues of genomic medicine:

Back 19

-need for expensive equipment, experiences, bioinformatics
-cost per whole genome sequence
-don't understand biology of SNPs
-problem of pre-symptomatic diagnosis of adult onset disorders
-we don't understand effects of gene-gene and gene-environmental issues

Front 20

What are the tools needed to practice personalized medicine?

Back 20

1. - family health history
-physical examination
-genomic (sequence) info
-clinical history incorporating environmental info (smoking, diet)
-clinical decision support for complex and predictive info

Front 21

the ___ is often neglected, but is one of the most cost-effective screens

Back 21

family history

Front 22

1. Massively parallel sequencing

2. Why is it better than Sanger?

Back 22

1. - entire process is automated
-DNA is bound to solid support
-multiple samples can be simulatenously analyzed using DNA bar codes (can identify which patient the DNA is coming from)

2. It can analyze many sequences of DNA at once , costs less

Front 23

it is currently feasible to sequence one person's genome, but it is ____ to apply this on a routine basis to clinical care

Back 23

cost-prohibitive

Front 24

1. Genomic testing can generate the following information:

Back 24

- Predicted genetic risks associated with Mendelian diseases
- Individual drug risks, tolerances, effective doses
- SNPs associated with diseases
- Novel mutations
- Carrier status for Mendelian disorders

Front 25

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Back 25

Blank

Front 26

Ethical issues of genomic medicine:

Back 26

- Is informed consent from whole genome sequencing even possible?

- Interpretationg of data for clincal problems - how should patients and their relatives be informed of results?

- Reporting of non-medical data (ancestry, paternity, "recreational" genes)

- Long-term storage of information (who should have access?)

Front 27

Practical issues of genomic medicine:

Back 27

-need for expensive equipment, experiences, bioinformatics
-cost per whole genome sequence
-don't understand biology of SNPs
-problem of pre-symptomatic diagnosis of adult onset disorders
-we don't understand effects of gene-gene and gene-environmental issues

Front 28

the ___ is often neglected, but is one of the most cost-effective screens

Back 28

family history

Front 29

it is currently feasible to sequence one person's genome, but it is ____ to apply this on a routine basis to clinical care

Back 29

cost-prohibitive

Front 30

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Back 30

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