Genetic testingBy: Bronwyn Peat

What is genetic testing? Genetic Testing:

it is a test that involves taking a sample from someone’s blood, hair, skin or other body part, then examining the person’s genes to look for signs they might be at high risk for certain diseases or disorders.

These diseases are called genetic diseases because the illnesses is in the genes

How long has genetic testing been going on?- In the 1960’s doctors began testing newborn babies for rare

diseases they could inherit from their parents - 1970s, researchers developed genetic tests that could be

done before a baby is born. Scientists found that if a mother and father both have the gene for a certain illness, their child has a high possibility of being born with that disease

Why is this useful? According to Dr. Holzman:

- “We're trying to determine how physicians and health care providers will respond to some of the new technologies in genetics. Whether they're ready to cope with this, to present this to patients, and how patients or how the public in general will respond to being offered genetic tests. That's the major technology we're confronted with now. The questions raise many interesting issues, and the answers are fascinating to me, and I think they're also important to inform public policy - who should be providing genetic tests, what does the public need to know, what do they know right now about genetic testing.”

Pros Cons

What are the risks and benefits?

- tests are used to clarify a diagnosis and direct a physician toward appropriate treatments

- Aggressive monitoring for and removal of colon growths in those inheriting a gene for familial adenomatous polyposis, for example, has saved many lives

- the current lack of available medical options for these diseases, the tests' potential for provoking anxiety

- risks for discrimination and social stigmatization could outweigh the benefits of testing.

- most serious limitations of these susceptibility tests is the difficulty in interpreting a positive result because some people who carry a disease-associated mutation never develop the disease

Are there any economic implications? Why Are Genetic Tests so Expensive? The cost of testing can vary widely depending on: Type of laboratory procedure used Cost of the labor involved in the procedure Size of the gene being tested Number of genes that are tested Royalty or patent costs involved in the test Whether the test is being done in a commercial or research

lab

Con’t Genetic tests are rare. One reason for the high cost is that because genetic

tests are rare. Laboratories do not conduct hundreds of tests a day like they do with more common (and less expensive) medical tests. As more people decide to get genetic testing and more tests are offered, the cost may decrease.

There are often additional costs associated with genetic testing. There may be additional costs to you besides the actual cost of the genetic test. These may include any cost for blood draw or specimen collection, Federal Express or other shipping costs, and genetic counseling or physician fees. These costs may vary depending on who orders your test. For example, medical insurance may help pay for time you spend with a doctor but not necessarily for time you spend with a genetic counselor. Also some doctors' offices require patients to pay for shipping and others do not.

Why should we care about it?

Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a child's paternity (genetic father).

Normally, every person carries two copies of every gene (with the exception of genes related to sex-linked traits, which are only inherited from the mother by males), one inherited from their mother, one inherited from their father.

Thank You

Bibliography

http://www.nature.com/scitable/topicpage/dtc-genetic-testing-23andme-dna-direct-and-674http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genetest.shtmlhttp://www.genetichealth.com/gt_genetic_testing_costs_of_genetic_testing.shtmlhttp://newsinhealth.nih.gov/2006/February/docs/01features_01.htm