Human+Variability+And+Personalized+Medicine+PPT

Functional protein people who have null alleles are

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Unformatted text preview: ness For Many Drugs Some alleles are null alleles—they produce no functional protein People who have null alleles are slow metabolizers—they should receive lower doses of the drugs, because they clear the drug out of their body more slowly than most people do This test still needs to be improved--it is good at identifying slow metabolizers, just so-so at identifying fast metabolizers, and very poor at telling the people who fall into the big middle part of the distribution whether they are on the high or low side of the bell curve The Best Medical Tests Must Include Several Different Factors Example: Predicting your safest and most effective dose of the bloodthinner warfarin involves combining: Sequence information for four genes The number of doses of warfarin you have already had Your age, sex, ethnicity, height and weight Whether or not you smoke Whether or not you have liver disease Whether you are taking certain other drugs that interfere with warfarin metabolism Best Progress Has Been Made In Cancer One test determines whether a woman with invasive breast cancer should be given Herceptin (If the HER2 gene is hyperactive, she should get Herceptin) They measure the concentration of the HER2 mRNA in cancerous versus normal cells from the same person This tells the doctor if her tumors are over-expressing HER2 Screening Prospective Parents For Recessive Mutations The 1,000 Genomes Project reports that healthy people possess between 50-100 recessive gene mutations in their DNA Disease Gene Symbol and Name Carrier Frequency and Population* Cystic Fibrosis CFTR; Cystic fibrosis 1/25 C; 1/150 As; transmembrane regulator 1/70 Af Hemochromatosis HFE; Hereditary hemochromatosis 1/10 C; 1/43 Af; 1/36 H protein Alpha-1antitrypsin deficiency SERPINA1; Serine protease 1/50 U inhibitor type A1 Spinal muscular atrophy SMN1; Survival of motor neuron 1 1/50 U * C = Caucasians, As = Asian-Americans, Af = African-Americans, H = Hispanic-Americans, U = Unspecified American population Personalized Medicine Will Enable You To Take A More Active Role In Maintaining Your Own Health Some people use the term P4 Medicine: Personal, Predictive, Preventive and Participatory By telling you which diseases you have the greatest risk for, personalized medicine tests enable you to figure out how to adjust your diet, environment and lifestyle to reduce your overall risk of developing these diseases Some Testing Is Done For Personal Information Genetic testing companies advertis...
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