My Time Genetics Science Project

By: Grace Jazwiecki Hour 3

How are people using genetics in their everyday lives?

Benefits and Drawbacks of Genetic Testing:

Source: National Human Genome Research Institute. "FAQ About Genetic Testing." FAQ About Genetic Testing. National Human Genome Research Institute, n.d. Web. 19 Nov. 2015.
Benefits of Genetic Testing:

  • The test results serve as a relief, by removing the stress of having uncertainty surrounding their health.
  • It can give more information about making difficult decisions.
  • It can also be helpful for families to make more informed decisions whether to have a baby or not.
  • It may help doctors to make recommendations to the patients in case they may need treatment or medication for their specific disease.

Drawbacks of Genetic Testing:

  • It has a very low risk for affecting your health.

  • It can be difficult financially or emotionally for families.

Some emotional aspects:
  • Learning that you or someone in your family has or is at risk for a disease can be scary. Some people can also feel guilty, angry, anxious, or depressed when they find out their results.

Financial:
  • Genetic testing can cost anywhere from less than $100 to more than $2,000.

  • Health insurance companies may cover part or all of the cost of testing.

  • Worries about discrimination

  • In 2008, Congress enacted the Genetic Information Nondiscrimination Act (GINA) to protect people from discrimination by their health insurance provider or employer. GINA does not apply to long-term care, disability, or life insurance providers.

Some more limitations of testing:
  • Genetic testing cannot tell you everything about inherited diseases. For example, a positive result does not always mean you will develop a disease, and it is hard to predict how severe symptoms may be.
  • Geneticists and genetic counselors can talk more specifically about what a particular test will or will not tell you, and can help you decide whether to undergo testing.

Genetic testing is often done to predict an individual’s risk for future health conditions or to establish a couple’s risk of having a child with an inherited disorder.

  • Almost all common cancers, including breast, ovarian, colon, pancreatic, and uterine cancers, as well as melanoma, have genes that can be identified to indicate a high risk of developing the disease.

  • Genetic testing is performed by a simple blood test saliva test.

  • Genetic testing for hereditary cancers has been available for 20 years, since the discovery of BRCA genes and several colon cancer genes.

  • Everyone has BRCA genes, in which it serves a critical role in protecting our DNA when our cells divide.

  • If there is a mutation in one copy of the BRCA gene, the cell is at risk for acquiring more genetic errors, which can eventually lead to the cells becoming cancerous.

  • The lifetime risk for cancer if you carry a mutation in a BRCA gene is very high (up to a 70 percent risk for breast cancer, and up to a 50 percent risk of ovarian cancer), but it is not an absolute: Some people with BRCA gene mutations never get cancer.

  • Changes in laws have made some tests more available as well.

  • Until 2013, the BRCA genes were held under patent, and only one company provided testing in the United States. Since the Supreme Court overturned the patent, risk assessment programs across the country, and multiple labs, now offer the widely available genetic test.

  • Usually the BRCA tests are covered by insurance.

  • About 10 percent of all breast cancers have an underlying single gene defect, whereas more than 25 percent of ovarian cancers are due to genetic susceptibility.

Many people are wondering how they are being tested and what they can do about it.

  • Talking about how disease and obesity in particular are highly beneficial for the companies that treat disease including medical devices, drug companies, etc.

    • Money is getting pumped into the research for things like Type II Diabetes (like $1.5-2b), but the fact is that this particular disease is preventable.

  • If you’re on a birth control pill and have a Factor 5 genetic something or other you are more likely to have blood clots, but they don’t test for that. It’s better for the healthcare system to treat the problem than it is to prevent it.

    • We’re spending $2.7 Trillion in Health Care Expenses.. healthcare companies are actually making money through their inefficiencies.

  • Prevention is better than being treated from a doctor.

  • Knowing what health risks you have and how you can cope with them.

  • Everyone has the right to know their genetic information.

Genetic tests provide DNA sequence information that can be used to identify mutations or other genetic variants.

  • Types of genetic tests

    • Somatic cell genetic testing involves testing tissue (usually cancer) for non-heritable mutations. This may be for diagnostic purposes, or to assist in selecting treatment for a known cancer.

    • Diagnostic testing for heritable mutations involves testing an affected person to identify the underlying mutation(s) responsible for the disease. This typically involves testing one or more genes for a heritable mutation.

    • Predictive testing for heritable mutations involves testing an unaffected person for a germline mutation identified in genetic relatives. The risk of disease will vary according to the gene, the mutation and the family history.

    • Carrier testing for heritable mutations involves testing for the presence of a mutation that does not place the person at increased risk of developing the disease, but does increase the risk of having an affected child developing the disease.

    • Pharmacogenetic testing for a genetic variant that alters the way a drug is metabolised. These variants can involve somatic cells or germline changes.

      • Even if these variants are heritable (i.e. germline changes), the tests are usually of relevance to genetic relatives only if they are being treated with the same type of medication.

  • Genetic information may be revealed by:

    • Studying entire chromosomes, RNA, proteins, substances in blood or tissues, and medical imaging techniques

    • Clinical examination leading to diagnosis of a genetic disease

    • Studying a person’s family tree, which allows genetic inferences to be made about a person on the basis of clinical findings or tests from other genetic relatives.
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