Cell Biology Lecture 31.5: Gene Testing II

(Pharmacogenomics) What is pharmacogenomics?

Study of how an individual's genetic makeup affects drug response

(Pharmacogenomics) What are the factors of pharmacogenomics?

1. Metabolism

2. Side Effects

3. Contraindications

(Pharmacogenomics) What treatments can be affected by pharmacogenomics?

1. Warfarin (Coumadin)

2. Chemotherapy

3. Antivirals

(Sickle Trait Screening) When must athletes be screened for sickle trait?

Before initiation

(Prenatal Cell Free DNA Screening) What is Prenatal Cell Free DNA Screening?

Quantifying the cell-free fetal DNA in maternal circulation

(Prenatal Cell Free DNA Screening) What does Prenatal Cell Free DNA Screening do?

Reveals birth defects before birth

(Prenatal Cell Free DNA Screening) What are the pros of Prenatal Cell Free DNA Screening?

1. Highest detection rate

2. Highest accuracy

3. Cost/accessibility

(Prenatal Cell Free DNA Screening) What are the cons of Prenatal Cell Free DNA Screening?

1. Lower predictive value for rare conditions

2. Not diagnostic

3. Cannot screen syndromes that haven't been screened before

4. Difficulty interpreting some results

(Whole Genome Sequencing) What is whole genome sequencing?

Sequencing and analysis of entire genome

(Whole Genome Sequencing) What is whole exome sequencing?

Sequencing and analysis of coding regions of genome (2%)

(Whole Genome Sequencing) When is the use of whole genome sequencing considered?

Used to be after completing all other possible tests

Now used first

(Whole Genome Sequencing) What are the concerns of whole genome sequencing (predictive testing)?

1. Volume of data

2. Variants

3. Unintended results

(Whole Genome Sequencing) What is the interpretation of whole genome sequencing based on?

Current understanding of genetics

(Hereditary Cancer Panels) What are hereditary cancer panels used for?

Simultaneously analyze many genes based on cancer risk

(Hereditary Cancer Panels) What is individualized risk assessment based on?

Genetic and family history

(Hereditary Cancer Panels) What are the cons of hereditary cancer panels?

1. Varying costs

2. Limited insurance access

(Genetic Medicine) What is the success of genetic medicine dependent on?

1. Accurate transmission of complex and predictive information

2. Understanding how to act on the information

(Genetic Medicine) What does genetic medicine offer the opportunity to do?

1. Alter lifestyle

2. Take preventive measures

3. Provide autonomy

(Predictive Genetic Testing) What is predictive genetic testing used for?

Testing for disease where patient has no current symptoms

(Predictive Genetic Testing) What is predictive genetic testing based on?

Current literature

(Predictive Genetic Testing) What law may affect predictive genetic testing?

GINA

(Utility of Genetic Testing) What limits the predictive power of genetic testing?

Penetrance and expressivity in genetic diseases

(Utility of Genetic Testing) What does genetic testing do during the disease process?

Intervene and affect outcome

(Utility of Genetic Testing) What affects the utility of genetic testing?

1. Availability of treatment

2. Understanding of disease

(Pre-Test Counseling) What should be discussed before genetic testing?

1. Family history

2. Genetics education

3. Pros/cons

4. Management strategies

5. Emotional concerns

6. Plans for follow-up

(Pre-Test Counseling) What are the special considerations for testing minors?

1. Childhood symptoms

2. Risk-reducing strategies

3. Consent

(Clinical Cases) Which disease is described with:

1. Hypotrichosis (Lack of body hair)

2. Hypohydrosis (Lack of sweat)

3. Hypodontia

Hypohidrotic Ectodermal Dysplasia

(Clinical Cases) Is Hypohidrotic Ectodermal Dysplasia autosomal dominant or recessive?

Both and X-Linked (95% X-Linked)

(Clinical Cases) Which disease is described with:

1. Skeletal dysplasia

2. Abnormal dentition

3. Hand abnormalities

Cleidocranial Dysplasia

(Clinical Cases) Is Cleidocranial Dysplasia autosomal dominant or recessive?

Dominant (High de novo mutation rate)

(Clinical Cases) Which disease is described with:

1. Hypoplasia

2. Ear abnormalities

3. Cleft palate

4. Micrognathia

5. Coloboma

Treacher Collins Syndrome

(Clinical Cases) Is Treacher Collins Syndrome autosomal dominant or recessive?

Can be either

(Clinical Cases) Which disease is described with:

1. Low muscle tone

2. Obsessive overeating

3. Short stature with small hands and feet

4. Hypogonadism

5. DD

6. Soft tooth enamel

Prader-Willi Syndrome

(Clinical Cases) What chromosome is affected in Prader-Willi Syndrome?

Chromosome 15

(Clinical Cases) Which disease is described with:

1. Cardiovascular disease

2. Connective tissue abnormalities

3. Intellectual disability

4. Growth/endocrine abnormalities

Williams Syndrome

(Clinical Cases) Is Williams Syndrome autosomal dominant or recessive?

Dominant

(Clinical Cases) Which disease is described with:

1. Benign growths

2. Supernumerary teeth

3. Increased colon cancer risk

Gardner Syndrome

(Clinical Cases) Which disease is a subtype of familial adenomatous polyposis?

Gardner Syndrome

(Clinical Cases) Is Gardner Syndrome autosomal dominant or recessive?

Dominant

(Clinical Cases) Which disease is described with:

1. Jaw keratocysts

2. Coarse facial features

3. Skeletal abnormalities

4. Medulloblastoma

5. Basal cell carcinoma

Gorlin Syndrome