Genetic Results

This page is here to help you explore the types of genetic results we may return. The biobank may not have results for all participants. Results may not be returned for several months, or even years, after enrollment. For more details about how the return of results process works, please visit our main Results page.

The information on this page is not medical advice. It provides general information about genetic test results only. Contact your doctor if you have questions about any genetic test results. Do not change or stop your medicines without talking to your doctor first. For medical help, visit a healthcare facility.

The biobank genetic tests do not look for all genetic variants in these genes. There are also many other genes linked to diseases like cancer and heart disease that are not tested for by the biobank.

It is important to remember that if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for the conditions described. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

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Gene: CYP2D6

When you take a medicine (or drug), your body needs to find a way to use it. Some proteins in your body break down (or metabolize) medicines. Breaking down a medicine can make it more active or less active, depending on what kind of medicine you are taking. If your body breaks down a medicine too quickly or too slowly, this may make the medicine not work as well. It may also cause a side effect.

The CYP2D6 gene gives instructions to your body about how to make a protein. It is the job of the CYP2D6 protein to break down certain medicines.  Some of these medicines are:

  • Some medicines that help with your mood or attention.
  • Some medicines that are used to treat pain.
  • Some medicines that are used to help with your muscles or fatigue.
  • Eliglustat: Used to treat Gaucher Disease.
  • Metoclopramide: Used to treat slow digestion because of diabetes mellitus or gastroesophageal reflux disease (GERD).
  • Metoprolol: Used to treat some heart conditions or high blood pressure.
  • Ondansetron: Used to treat nausea or vomiting.
  • Tamoxifen: Used to treat breast cancer.

These are the medicines that we know of right now that are impacted by CYP2D6 gene test results. Medical experts keep finding new data about which medicines are affected by gene test results.

By testing your DNA, we can find DNA differences. This can help us to see how well the proteins in your body work to break down certain medicines. 

The results of your CYP2D6 gene test put you into 1 of 4 groups:

  • Ultrarapid metabolizer: People in this group may have increased activity of CYP2D6 proteins.
  • Normal metabolizer: People in this group are likely to have normal working CYP2D6 proteins.
  • Intermediate metabolizer: People in this group may have reduced activity of CYP2D6 proteins. 
  • Poor metabolizer: People in this group may have very little or no active CYP2D6 protein. 

The results of this test can help your doctor choose the right medicine and dose for you.

An important note: Do not stop using or change any of your medicines before speaking with your doctor. The information you get through this website is not meant to be medical advice. The information you get through this website will include genetic test results only. If you need medical help, please get care at a health care facility. Contact your doctor about any genetic test results that you get from the biobank.

Gene: CYP3A5

When you take a medicine (or drug), your body needs to find a way to use it.  Some proteins in your body break down (or metabolize) medicines.  Breaking down a medicine can make it more active or less active, based on what kind of medicine you are taking.  If your body breaks down a medicine too quickly or too slowly, this may make the medicine not work as well.  It may also cause a side effect.

The CYP3A5 gene tells your body how to make a protein.  It is the job of the CYP3A5 protein to break down certain medicines.  An example of this medicine is tacrolimus. This medicine is used after transplants and to treat certain skin diseases.

This is 1 medicine that we know of right now that is impacted by CYP3A5 gene test results.  Medical experts keep finding new data about which medicines are affected by gene test results.

By testing your DNA, we can find DNA differences.  This can help us to see how well the proteins in your body work to break down certain medicines. 

The results of your CYP3A5 gene test put you into 1 of 3 groups:

  • Normal metabolizer: People in this group are likely to have normal working CYP3A5 proteins.
  • Intermediate metabolizer: People in this group may have reduced activity of CYP3A5 proteins. 
  • Poor metabolizer: People in this group may have very little or no active CYP3A5 protein. 

The results of this test can help your doctor choose the right medicine and dose for you.

An important note: Do not stop using or change any of your medicines before speaking with your doctor. The information you get through this website is not meant to be medical advice. The information you get through this website will include genetic test results only. If you need medical help, please get care at a health care facility. Contact your doctor about any genetic test results that you get from the biobank.

Gene: CYP4F2

When you take a medicine (or drug), your body needs to find a way to use it.  Some proteins in your body break down (or metabolize) medicines.  Breaking down a medicine can make it more active or less active, based on what kind of medicine you are taking.  If your body breaks down a medicine too quickly or too slowly, this may make the medicine not work as well.  It may also cause a side effect.

The CYP4F2 gene tells your body how to make a protein.  It is the job of the CYP4F2 protein to help your body break down certain medicines.  An example of this medicine is warfarin. This medicine is used to treat and prevent blood clots. 

 This is 1 medicine that we know of right now that is impacted by CYP4F2 gene test results.  Medical experts keep finding new data about which medicines are affected by gene test results.

 By testing your DNA, we can find DNA differences.  This can help us to see how well the proteins in your body work to break down certain medicines. 

 The results of your CYP4F2 gene test put you into 1 of 3 groups:

  • Normal function: People in this group are likely to have normal working CYP4F2 proteins.
  • Intermediate function: People in this group may have reduced activity of CYP4F2 proteins. 
  • Poor function: People in this group may have very little or no active CYP4F2 protein. 

The results of this test can help your doctor choose the right medicine and dose for you. 

An important note: Do not stop using or change any of your medicines before speaking with your doctor. The information you get through this website is not meant to be medical advice. The information you get through this website will include genetic test results only. If you need medical help, please get care at a health care facility. Contact your doctor about any genetic test results that you get from the biobank.

Gene: DES

Associated Phenotype/Condition: Dilated cardiomyopathy

  • A disease of the heart muscle characterized by an enlargement (dilation) of the heart that can lead to an abnormal heart rhythm (arrhythmia), heart failure and other cardiac complications.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: DPYD

When you take a medicine (or drug), your body needs to find a way to use it.  Some proteins in your body break down (or metabolize) medicines.  Breaking down a medicine can make it more active or less active, based on what kind of medicine you are taking.  If your body breaks down a medicine too quickly or too slowly, this may make the medicine not work as well.  It may also cause a side effect.

The DPYD gene gives instructions to your body to make the DPD protein.  It is the job of the DPD protein to break down certain medicines.  These medicines include some anticancer treatments, called fluoropyrimidines.  Examples of these medicines are:

  • Capecitabine
  • Fluorouracil (5-FU)

These are the medicines that we know of right now that are impacted by DPYD gene test results.  Medical experts keep finding new data about which medicines are affected by gene test results. 

By testing your DNA, we can find DNA differences.  This can help us to see how well the proteins in your body work to break down certain medicines. 

The results of your DPYD gene test put you into 1 of 3 groups:

  • Normal metabolizer: People in this group are likely to have normal working DPD proteins.
  • Intermediate metabolizer: People in this group may have reduced function of DPD proteins. 
  • Poor metabolizer: People in this group may have very little or no active DPD protein. 

The results of this test can help your doctor choose the right medicine and dose for you.

An important note: Do not stop using or change any of your medicines before speaking with your doctor. The information you get through this website is not meant to be medical advice. The information you get through this website will include genetic test results only. If you need medical help, please get care at a health care facility. Contact your doctor about any genetic test results that you get from the biobank.

Gene: DSC2

Associated Phenotype/Condition: Arrhythmogenic right ventricular cardiomyopathy (ARVC)

  • A disease of the heart muscle that can lead to an abnormal heart rhythm (arrhythmia), heart failure and other cardiac complications such as sudden death.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: DSG2

Associated Phenotype/Condition: Arrhythmogenic right ventricular cardiomyopathy (ARVC)

  • A disease of the heart muscle that can lead to an abnormal heart rhythm (arrhythmia), heart failure and other cardiac complications such as sudden death.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: DSP

Associated Phenotype/Condition: Arrhythmogenic right ventricular cardiomyopathy (ARVC)

  • A disease of the heart muscle that can lead to an abnormal heart rhythm (arrhythmia), heart failure and other cardiac complications such as sudden death.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: ENG

Associated Phenotype/Condition: Hereditary hemorrhagic telangiectasia (HHT)

  • A disorder where some blood vessels have not developed properly, leading to abnormal connections between arteries and veins. This condition leads to abnormal bleeding and often affects the brain, lungs, and liver, with some complications being life threatening.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: FBN1

Associated Phenotype/Condition: Aortopathies (Marfan Syndrome, Loeys- Dietz Syndromes, and Familial Thoracic Aortic Aneurysms and Dissections)

  • Disorders characterized by the enlargement of the aorta which increases risk of aneurysm/ dissection and can include other health issues such as lens dislocation of the eye (Marfan syndrome) or aneurysms/ dissections of other arteries (Loeys Dietz syndrome).

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: FLNC

Associated Phenotype/Condition: Dilated cardiomyopathy

  • A disease of the heart muscle characterized by an enlargement (dilation) of the heart that can lead to an abnormal heart rhythm (arrhythmia), heart failure and other cardiac complications.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

 

Gene: GAA

Associated Phenotype/Condition: Pompe disease (autosomal recessive)

  • A progressive muscle disease that causes significant muscle weakness leading to difficulties with movement and breathing issues. Different forms exist with differing ages of onset of symptoms and rates of progression of disease.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: GLA

Associated Phenotype/Condition: Fabry disease (X linked)

  • A condition that can cause a variety of health complications including kidney disease/ kidney failure; heart disease and heart rhythm issues (arrhythmia), strokes, digestive issues, neuropathy, and temperature sensitivity. Both men and women can be affected with this condition.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: HFE

Associated Phenotype/Condition: Hereditary hemochromatosis

  • A condition that leads to excess iron in the body’s tissues and can cause multiple health complications including liver disease, heart problems and diabetes.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: HNF1A

Associated Phenotype/Condition: Maturity-onset diabetes of the young (MODY)

  • An inherited form of diabetes that presents similarly to adult type diabetes, but at younger ages than typically seen with adult type diabetes.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: KCNH2

Associated Phenotype/Condition: Long QT Syndromes Types 1, 2, and 3, Brugada Syndrome

  • Conditions characterized by abnormal heart rhythm (arrhythmia) that can cause fainting, seizures, and other cardiac complications such as sudden death.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: KCNQ1

Associated Phenotype/Condition: Long QT Syndromes Types 1, 2, and 3, Brugada Syndrome

  • Conditions characterized by abnormal heart rhythm (arrhythmia) that can cause fainting, seizures, and other cardiac complications such as sudden death.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: LDLR

Associated Phenotype/Condition: Familial hypercholesterolemia

  • Increased risk for high cholesterol.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: LMNA

Associated Phenotype/Condition: Dilated cardiomyopathy

  • A disease of the heart muscle characterized by an enlargement (dilation) of the heart that can lead to an abnormal heart rhythm (arrhythmia), heart failure and other cardiac complications.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: MAX

Associated Phenotype/Condition: Hereditary Paraganglioma- Pheochromocytoma Syndrome

  • Syndromes characterized by the growth of paragangliomas and pheochromocytomas (paragangliomas in the adrenal glands) which are tumors that come from neuroendocrine tissues that control blood pressure.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

 

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