Our pathologists and molecular geneticists are leaders in their field with specialized knowledge and expertise. They provide informed and practical advice to assist with the interpretation of results. Doctors face an ever-expanding variety of genetic tests that could influence how they care for patients.
Since the Human Genome Project was completed in 2003, the introduction of new genetic tests has far outpaced the ability of health practitioners.
GreenMCMeds translates scientific discoveries into customized and more effective treatments for the patient. We can help predict disease risk and determine how patients might respond to certain treatments. The same technologies that are improving the discovery of therapeutic molecules for disease are being used by GMCM to assist in the screening, diagnosis, and classification of disease patients.
A. GreenMCMeds Preventative Disease Screening detects gene mutations (defects in the genes) that are linked to many of the most common and devastating diseases that can be passed unknowingly from parent to child. GreenMCMeds’ disease screening is a test for parents and prospective parents that provides information on whether a patient has a gene mutation(s) that are linked to a disease. The results provide information on the likelihood of a child inheriting a rare disease(s).
A. The full list of diseases along with additional information can be found here: Alpha Thallasemia, Aortic Disfunctions, Beta Thallasemia, Bloom Disease, Canavan Disease, Cystic Fibrosis and CF related diseases, Familial Dysautonomia, Fanconi Anemia, Fragile-X, Galactosemia, Gaucher Disease, Glycogen Storage Disease Type IV, Long Q-T Syndrome, Maple Syrup Disease, Mucolipidosis Type IV, Niemann Pick Disease, Non-Syndromic Hearing Loss, OTC Deficiency, Phenylketonuria, Pompe Disease (Glycogen Storage Disease Type 2), Sickle Cell Disease (Amenia), Spinal Muscular Atrophy, Tay-Sachs and Usher Syndrome within others.
A. A genetic disease is a disease that is caused because of a mutation in an individual’s genetics. When this mutation is passed from parent to child, it is considered hereditary.
A. Most people are born with 46 chromosomes. Chromosomes contain genes, which is where our DNA is. DNA is the “instructional manual” of the body. These 46 chromosomes are made of 23 pairs of chromosomes. We get one chromosome from each of our parents. This means that for each trait in our body (with rare exceptions) we have 2 chromosomes that determine what that trait will be.
In general, even if a person has different genes for a specific trait, only one of the genes will be visible. For example, if an individual has one gene for brown eyes and one for blue eyes, they will not have one brown eye and one blue eye. Instead they will have two brown eyes because for eye color. This is because the gene for the color brown is “dominant.” Traits which are not dominant are called “recessive.” A recessive trait will only be apparent if the individual has two copies of that trait.
An exception to the rule above are traits known as “X-linked” traits. These traits are linked to the X chromosome. Females have two X chromosomes while males have one X chromosome and one Y chromosome. This means that males do not have one section of gene (the second leg of the “X”). For recessive traits that are on this gene, woman (who have 2 “X” genes) will require two mutated genes, while for males who receive a “Y” gene from their Dad, they will have the disease if they inherit a mutated gene from their mother. For this reason, “X-Linked recessive disorders” are much more common amongst men than women. Examples of X-linked recessive disorders include Hemophilia A and Red-green color blindness.
A. Because many genetic diseases are recessive, it is possible for someone to have 1 copy of the faulty gene without having any symptoms. This can go on for many generations without anyone recognizing that there is a mutation being passed down. These individuals are called “carriers” because they carry a faulty gene. The concern is that if an individual is a carrier and they marry someone who is a carrier, there is a risk that their children will wind up with 2 copies of the mutation and therefore they will inherit the disease.
Further, for some diseases that are dominant (meaning that all it takes is 1 copy of the defective gene to cause a person to show symptoms) there are some instances where the onset of the disease may be later in life. On occasion an individual may have the mutation and not show symptoms. Because of this, there is value in testing for these diseases, even if no parent has shown signs of having the disease.
A. The odds of being a carrier depend on the type of the disease and the individual’s ethnicity. In some studies, incidence of testing positive as a carrier was as high as 25% of more when testing for a number of diseases at one. For cystic fibrosis, one of the more common diseases, rates are:
|Racial or Ethnic Group||Detection Rate* (%)||Carrier Risk Before Testing||Approximate Carrier Risk After Negative Test Result|
*Detection rate data based on use of a 23-mutation panel.
†Bayesian statistics used to calculate approximate carrier risk after a negative test result. Modified from the American College of Medical Genetics. Technical Standards and Guidelines for CFTR Mutation Testing, 2006 Edition. Available at: http://www.acmg.net/Pages/ACMG_Activities/stds-2002/cf.htm. Retrieved December 16, 2010.
A. Testing positive means that you are a carrier for a specific disease meaning you have a single faulty copy of the gene. It does not mean that you have the disease, nor does it mean that your children will have the disease. If your partner is also a carrier of a positive mutation for the same gene (even if it is a different mutation) any offspring are at a 1 in 4 risk of inheriting the disease.
A. After getting genetic testing, it is recommended that you speak to a genetic counselor to best understand the impact of the test results. If you test positive for a disease it is important to test your partner to determine whether they are also a carrier. If you are pregnant you may want to test the child as well although some of the diseases have no cure, (and the range of severity can vary amongst people with the same disease) so it is a personal decision.
A. Partners who are both carriers have a number of options that they may consider when looking to conceive. The decision regarding what steps to take is a personal one and can vary significantly based on the specific disease and personal factors related to the couple. Some people may decide not to do anything. That said, some of the options include:
A. In some cases, a parent may have a mutation for a disease, but the gene has incomplete penetrance and the disease does not occur until later in life if at all. Because of this, there is reason to test for certain diseases that are passed in autosomal dominant fashion, even though no parent shows symptoms of the disease.
A. There are reasons for a many people to consider carrier testing?
A. Even without any history of genetic disease in your family there are reasons to consider genetic testing. While most hereditary diseases are fairly uncommon, roughly 80% of all recessive diseases occur in families with no known family history. This is because the diseases are only occur when a person has two defective (mutated) genes, one from each of their parents. It is often the case that no one in the family had the disease for generations because individuals only had a single copy of the defective gene. People with one copy of the mutation are referred to as “carriers” for the specific disease. For while they themselves are healthy, they “carry” a faulty gene and can pass it to their children.
A. Carrier testing is generally only done once as genetics rarely change. A doctor might recommend testing for diseases that were not previously tested for. If you have been tested but you have a new partner that has not been tested, your new partner should get tested.
A. Contact GreenMCMeds for assistance on learning more about disease/carrier testing.
A. To request carrier/disease testing, please contact GreenMCMeds on the ‘Contact Us’ (create “contact us” a clickable link to redirect them to the Contact Us form for Patients) form and we will get you started.
A. The DNA sample is collected using mouthwash and a cheek swab. It is simple and non-invasive.
A. Getting tested at the same time is not necessary, but will save time if one of the partners is a carrier for a disease. Often the female partner will get tested first, and the male partner will get screened if she tests positive for a disease, although either partner can be tested independent of the other.
A. GreenMCMeds Disease Screening offers 2 testing options:
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