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: ABCD1

Associated Phenotype/Condition: Adrenoleukodystrophy (X linked)

  • A disorder that affects the nervous system and adrenal glands leading to behavioral and cognitive changes and decline, neurological symptoms including seizures, and adrenal insufficiency.  The symptoms vary widely with some individuals affected early in life, some later in life and others not ever demonstrating symptoms.  Sex of the affected individual can influence timing and severity of symptoms.  

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: ABCG2

When you take a medicine (or drug), your body needs to find a way to use it.  Some proteins in your body carry (transport) medicines so that they can be used.  If your body can’t carry a medicine to the right place, this may make the medicine not work as well.  It may also cause a side effect.

The ABCG2 (say "AY-BEE-SEE-JEE-2") gene helps your body make a protein the carries certain medicines, including:

  • Rosuvastatin (for lowering cholesterol) 

This is the medicine that we know of right now that is impacted by ABCG2 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 carry different medicines. 

The results of your ABCG2 gene test will place you into 1 of 3 groups:

  • Normal function: Your ABCG2 proteins likely work normally. 
  • Decreased function: Your ABCG2 proteins may not work as well as they should. 
  • Poor function: Your ABCG2 proteins may or may not work at all.

 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: ACTA2

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: ACTC1

Associated Phenotype/Condition: Hypertrophic cardiomyopathy

  • A disease of the heart muscle characterized by a thickening of heart muscle 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: ACVRL1

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: APC

Associated Phenotype/Condition: Familial Adenomatous

  • A syndrome characterized by 20-1000’s of colon polyps and an increased risk for the development of colon cancer.

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: APOB

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: ATP7B

Associated Phenotype/Condition: Wilson Disease (autosomal recessive)

  • A disorder that causes too much copper to accumulate in the organs, particularly the liver, brain, and eyes, causing neurological issues such as uncontrolled movements and problems with speech, swallowing, and coordination.

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: BAG3

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: BMPR1

Associated Phenotype/Condition: Juvenile Polyposis Syndrome

  • A disorder characterized by the development of noncancerous (benign) polyps, specifically in the gastrointestinal tract, before the age of twenty.

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: BRCA1

Associated Phenotype/Condition: Hereditary Breast and Ovarian Cancer

  • An increased risk for the development of breast, ovarian, pancreatic and other cancers.

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: BRCA2

Associated Phenotype/Condition: Hereditary Breast and Ovarian Cancer

  • An increased risk for the development of breast, ovarian, pancreatic and other cancers.

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: BTD

Associated Phenotype/Condition: Biotinidase deficiency (autosomal recessive)

  • A disorder where the body cannot normally process the vitamin biotin. The severe form leads to seizures, developmental delays and multiple health issues and is typically recognized in the first months of life.

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: CACNA1S

Associated Phenotype/Conditions: Malignant hyperthermia susceptibility'

  • A rare life-threatening condition that is usually triggered by exposure to certain drugs used for general anesthesia.

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: CASQ2

Associated Phenotype/Condition: Catecholaminergic polymorphic ventricular tachycardia (CPVT)

  • A condition characterized by an abnormal heart rhythm (arrhythmia) where a trigger such as physical activity can lead to an abnormally fast and irregular heartbeat.

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: COL3A1

Associated Phenotype/Condition: Ehlers-Danlos Syndrome- vascular type

  • The most severe type of Ehlers-Danlos Syndrome that affects the connective tissues that support the skin, bones, blood vessels and joints. This form of Ehlers Danlos syndrome has an increased risk for rupturing of arteries, muscles and internal organs. Other forms of Ehlers Danlos syndrome not evaluated through this gene.

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: CYP27A1

Associated Phenotype/Condition: Cerebrotendinous xanthomatosis

  • A disorder where the body cannot break down lipids normally leading to fatty deposits called xanthomas, most commonly in the brain and connective tissue.  This condition causes a variety of health complications and in its severe form causes neurological symptoms such as seizures and cognitive decline.

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: CYP2C Cluster

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 CYP2C cluster gene tells your body how to make a protein.  It is the job of the CYP2C cluster 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 CYP2C cluster 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 CYP2C cluster gene test put you into 1 of 3 groups:

  • Normal function: People in this group are likely to have normal working CYP2C cluster proteins.
  • Intermediate function: People in this group may have reduced activity of CYP2C cluster proteins. 
  • Poor function: People in this group may have very little or no active CYP2C cluster 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: CYP2C19

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 CYP2C19 (say "SIP-2-SEE-19") gene helps your body make a protein that breaks down certain medicines, including: 

  • Brivaracetam - Seizures
  • Clobazam - Seizures
  • Clopidogrel - Blood Clots
  • Proton pump inhibitors (PPIs) (Dexlansoprazole, Lansoprazole, Omeprazole, Pantoprazole) - Acid Reflux and Stomach Ulcers
  • Selective serotonin reuptake inhibitors (SSRIs): Citalopram, Escitalopram, Sertraline - Anxiety and Depression
  • Voriconazole - Fungal Infections

These are the medicines that we know of right now that are impacted by CYP2C19 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 CYP2C19 gene test put you into 1 of 5 groups:

  • Normal metabolizer: Your CYP2C19 proteins likely work normally. 
  • Intermediate metabolizer: Your CYP2C19 proteins likely have reduced activity. 
  • Poor metabolizer: Your CYP2C19 proteins may or may not work at all. 
  • Rapid metabolizer: Your CYP2C19 proteins likely have high activity. 
  • Ultrarapid metabolizer: Your CYP2C19 proteins likely have very high activity. 

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.

 

The above information was reproduced and paraphrased with permission from St. Jude Children’s Hospital.

Gene: CYP2C9

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 CYP2C9 (say "SIP-2-SEE-9") gene helps your body make a protein that breaks down certain medicines, including:

  • NSAIDs: Celecoxib, Ibuprofen, Meloxicam, Piroxicam - Pain relief
  • Phenytoin & Fosphenytoin - Seizures
  • Siponimod - Multiple Sclerosis
  • Warfarin - Blood Clots

These are the medicines that we know of right now that are impacted by CYP2C9 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 CYP2C9 gene test put you into 1 of 3 groups:

  • Normal metabolizer: Your CYP2C9 proteins likely work normally.
  • Intermediate metabolizer: Your CYP2C9 proteins may not work as well as they should. 
  • Poor metabolizer: Your CYP2C9 proteins may or may not work well at all. 

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.

 

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