| front |
back |
revisions |
lasted changed by |
history |
| Insurance |
-GTests not covered
– If yes, those insurers will have access to results |
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mcs5109 Sun, 01 Nov 2009 07:10:16 GMT |
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| Who investigated GT kits? |
– US Government Accountability Office |
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mcs5109 Sun, 01 Nov 2009 07:10:16 GMT |
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| GT Regulations |
-none in US
– Categorized as services, not regulated by FDA
– Dubious claims
• no recommendations/counseling |
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mcs5109 Sun, 01 Nov 2009 07:10:16 GMT |
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| Down Syndrome |
• Trisomy 21
• Incidence increases with mom age
• Increased risk for certain medical
conditions
• Life expectancy dramatically improved over last decades (from 25-->60) |
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mcs5109 Sun, 01 Nov 2009 07:04:59 GMT |
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| Tay‐Sachs Disease |
• Inherited metabolic disorder
• Defect in enzyme hexosaminidase (Hex A)
• Infantile and late‐onset
– Infantile most common
– Severe retardation
• Affects Jews usually
• No treatment‐fatal
• Tests are enzymatic or genetic |
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mcs5109 Sun, 01 Nov 2009 07:04:59 GMT |
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| Sickle Cell |
• Anemic disorder
• Defective hemoglobin
• Autosomal recessive disorder
• Affects millions around the world
• affects mostly blacks
• Simple blood test‐ infants |
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mcs5109 Sun, 01 Nov 2009 07:04:59 GMT |
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| Huntington’s Disease |
• Degenerative brain disorder
• Autosomal dominant gene
• Presents 30‐50 years
• Disease symptoms vary
• Testing
– Predictive
– Confirmatory
– Prenatal |
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mcs5109 Sun, 01 Nov 2009 07:04:59 GMT |
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| Type B Hemophilia |
-Christmas disease, defect in clotting factor IX |
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mcs5109 Sun, 01 Nov 2009 06:56:55 GMT |
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| Type A Hemophilia |
-classical hemophilia, defect in clotting factor VIII |
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mcs5109 Sun, 01 Nov 2009 06:56:55 GMT |
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| Duchenne Muscular Dystrophy |
-affects voluntary muscles
• X‐linked recessive inheritance
• DMD gene encodes for Dystrophin‐ the largest gene to date
• Symptoms evident in infancy
• Testing
– Muscle sample‐ protein stain
– DNA sample‐ large deletions or
sequencing |
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mcs5109 Sun, 01 Nov 2009 06:56:55 GMT |
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| Cystic Fibrosis |
• Most common inherited disease among causcasians
• Disease due to defect in ion channel protein CFTR
-autosomal recessive |
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mcs5109 Sun, 01 Nov 2009 06:56:54 GMT |
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| Charcot‐Marie‐Tooth |
• common neuro disorder
• Onset is adolescence
-gradual progression, pain
• Not lethal, normal life expectancy
• many forms vary in severity
and symptoms |
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mcs5109 Sun, 01 Nov 2009 06:56:54 GMT |
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| Breast Cancer |
• Only 5‐10% of women have hereditary form
• BRCA1 & BRCA2
– increased chances with BRCA mutation
• Susceptibility only
• Need determined by family history |
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mcs5109 Sun, 01 Nov 2009 06:56:54 GMT |
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| Hemophilia |
• X‐linked recessive inheritance
• Hemophilia A or Hemophilia B
• Testing is done to identify women who are carriers or to diagnose fetuses during pregnancy |
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mcs5109 Sun, 01 Nov 2009 06:56:54 GMT |
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| Sporadic |
-late‐onset Alzheimers: most common |
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mcs5109 Sun, 01 Nov 2009 06:47:59 GMT |
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| FAD |
-early‐onset Alzheimers: develops before age 65 |
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mcs5109 Sun, 01 Nov 2009 06:47:59 GMT |
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| riluzole |
-Riluzole is a drug used to treat amyotrophic lateral sclerosis
-still no cure for ALS |
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mcs5109 Sun, 01 Nov 2009 06:47:59 GMT |
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| Amyotrophic Lateral Sclerosis |
• ALS or Lou Gehrig’s disease
• Progressive neurodegenerative disease
– Muscle weakness, speech,
swallowing and breathing difficulty
• No treatment
– FDA approved drug riluzole |
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mcs5109 Sun, 01 Nov 2009 06:47:59 GMT |
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| Guthrie test |
a medical test performed on newborn infants to detect phenylketonuria |
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mcs5109 Sun, 01 Nov 2009 06:47:59 GMT |
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| Phenylketonuria |
Phenylketonuria (PKU)‐ increased level of phenylalanine in blood (enzyme deficiency)
– If untreated, severe retardation
– just need diet restrictions
– Guthrie test |
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mcs5109 Sun, 01 Nov 2009 06:47:59 GMT |
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| What proteins can be tested for genetic problems? |
• Proteins‐ testing restricted to enzymatic proteins, not valid for structural proteins |
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mcs5109 Sun, 01 Nov 2009 06:47:59 GMT |
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| How is genetic testing done? |
• Tissue sample is taken
• Proteins‐ testing restricted to enzymatic proteins, not valid for structural proteins
• DNA‐ molecular diagnosis
• Chromosomes |
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mcs5109 Sun, 01 Nov 2009 06:47:59 GMT |
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| Alzheimer’s Disease |
• Complex
• Two types‐ familial (FAD) & sporadic
• Apolipoprotein
– 3 common alleles: ApoE2, ApoE3, ApoE4 |
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mcs5109 Sun, 01 Nov 2009 06:47:59 GMT |
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| • Forensic testing |
‐ uses DNA sequences to
identify an individual for legal purposes
– Victim identification
– Criminal involvement
– Relationships |
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mcs5109 Sun, 01 Nov 2009 06:36:52 GMT |
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| • Predictive testing |
‐ to detect gene mutations associated with disorders that appear after birth
– Presymptomatic: presence of mutation indicates individual will likely develop symptoms
– Predisposition: development of symptoms is likely but not certain
– Can influence life decisions
– Discouraged in children if no treatment is available |
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mcs5109 Sun, 01 Nov 2009 06:36:52 GMT |
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| • Preimplantation testing |
‐ a specialized technique that can reduce the risk of having a child w/ a genetic disorder
– aka preimplantation genetic diagnosis (PGD)
– Limited availability
– Not always possible
– $$$ |
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mcs5109 Sun, 01 Nov 2009 06:36:52 GMT |
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| • Prenatal testing |
‐ detect changes in a fetus’s
genes or chromosomes before birth
– Amniocentesis, chorionic villi sampling
– May impose increased risk to fetus
– Specific mutations must be identified in parents |
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mcs5109 Sun, 01 Nov 2009 06:36:52 GMT |
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| • Carrier testing |
-to identify people who carry one copy of a mutation
– Reproductive choices
– Counseling and educational support
– Family testing
– Risk assessment for ethnic groups |
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mcs5109 Sun, 01 Nov 2009 06:36:52 GMT |
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| • Diagnostic Testing |
‐ to identify a specific genetic or chromosomal condition
– Symptomatic
– Medical management
– May have implications for family members
– May require more than one test |
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mcs5109 Sun, 01 Nov 2009 06:36:52 GMT |
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| • Newborn screening |
‐ genetic disorders that can be treated early in life
– Not intended for diagnosis
– Phenylketonuria (PKU) |
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mcs5109 Sun, 01 Nov 2009 06:36:52 GMT |
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| Types of Genetic Tests |
• Newborn screening
• Diagnostic testing
• Carrier testing
• Prenatal testing
• Preimplantation testing
• Predictive testing
• Forensic testing
• Genome scanning‐SNPs |
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mcs5109 Sun, 01 Nov 2009 06:36:51 GMT |
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| • Genome Scanning‐ SNPs |
– Can be used to predict how you’ll respond to certain drugs
– Useful for complex (multigenic) traits
– Some associated with risk of disease |
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mcs5109 Sun, 01 Nov 2009 06:36:51 GMT |
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