Product Consent

Effective date: July 24, 2017





Inherited Cholesterol Test Product Consent

Table of Contents


Glossary

  • Autosomal Recessive Familial Hypercholesterolemia (ARFH): genetic condition caused by the presence of two variants in the same gene, one from each parent, in the LDLRAP1 gene. The parents, if they have only one variant, are unlikely to develop symptoms, and are called “carriers.”

  • Familial Hypercholesterolemia (FH): genetic condition caused by the presence of one variant in one gene, inherited most commonly from either parent but may be a new mutation that was not inherited. Unlike a recessive disease, dominant diseases can lead to symptoms due to just one variant. In this product, variants can be found in one of three genes: LDLR, APOB, PCSK9.

  • Genes: Sections of DNA that program, or “code,” for one or more traits. For instance, one gene could code for a certain type of cell in a person’s eye, or it could code for cells in the eye, heart, and liver.

  • Genetic Counselor: Genetic counselors have advanced training in medical genetics and counseling to interpret tests results and guide and support patients seeking more information about how inherited diseases and conditions might affect them or their families.

  • Homozygous Familial Hypercholesterolemia (HoFH): genetic condition caused by the presence of two variants in the same gene, one from each parent, in the LDLR, APOB, or PCSK9 genes. The parents, if they have only one variant, have Familial Hypercholesterolemia (FH).

  • Variant: In the context of this test, a variant is a change in a gene that can lead to increased odds, and sometimes a near certainty, that a person will experience a certain health problem.1


About this Test

Most people develop high cholesterol because of a combination of environmental, lifestyle, and genetic factors that add up to cause the disease. However, about 1 in 250 people have an inherited condition that causes very high cholesterol that is caused by a change in a single gene. For these people, diet and exercise are often insufficient ways to manage cholesterol.

The Inherited Cholesterol Test is intended to provide you with information about whether you carry a genetic variation that can cause inherited forms of very high “bad” LDL cholesterol. This genetic test for Familial Hypercholesterolemia (FH) includes three types of FH: Autosomal dominant FH, Autosomal Recessive FH, and Homozygous FH, collectively referred to here as FH. The type of FH is related to the way in which it is inherited and the specific gene that is involved.

FH may lead to a person being at higher than average risk of having or developing high or severely high cholesterol. High cholesterol can lead to a person having an increased chance of cardiovascular disease, including heart attacks, at an early age. People who have or are positive for one or more variants in the genes included in this product should contact their healthcare provider to learn about ways to screen, prevent, diagnose, or treat high cholesterol. This information could also be useful for biological relatives, as their DNA may have the same variant(s).


Background and Limitations

Genes are portions of DNA, like chapters in a book. Some genes, when they have a variant, or change, in the gene, only affect one organ, trait, or symptom, such as how much cholesterol is in a person’s blood stream. Other genes can affect multiple organs, traits, or symptoms. For instance, people who have FH will sometimes also have yellow bumps on their skin, called “xanthomas”, which are clumps of cholesterol.

The Inherited Cholesterol Test checks the most common genes linked to familial hypercholesterolemia: LDLR, APOB, PCSK9, and LDLRAP1. However, it does not check all gene variants, or changes, linked to FH. For example, within the LDLR gene, this product will not be able to check for certain types of genetic variations that are known to cause FH. These are known as copy number variants (CNVs) or large rearrangements. These variants account for a small number of cases and can be tested for in more comprehensive clinical testing panels that your physician or genetic counselor can discuss with you. In addition, genetic testing does not find variants in all people with symptoms of FH. Therefore if you have symptoms of FH or a strong family history of early heart disease or stroke, you may want to discuss being evaluated for FH with your doctor or a genetic counselor.

We are always working to improve our products with research and development. We may use your de-identified sample in these efforts. We do not share in the profits from this research with our customers. But, our customers may benefit from improved products that come from the research.

We may choose to perform research that may be published in academic journals. We will only use your data for such research if you give us your consent. We will ask for that consent through our Research Consent. That Research Consent will have been approved by an Institutional Review Board (IRB). You can choose to decline taking part in this research. Your choice will not affect any services or opportunities you may otherwise be entitled to.


What you may learn

This product generates three possible results based on whether any variants are identified:

  • No variant found: No variant linked to FH was found. If you have a personal or family history of high cholesterol or early heart disease or stroke, you may want to consult with your physician or a genetic counselor.

  • Likely pathogenic: A variant with strong scientific evidence linking it with FH was found, called a “likely pathogenic variant”. You should talk with your doctor or cardiologist about managing your risk for high cholesterol. Consulting with a genetic counselor may also be helpful.

  • Pathogenic: A variant with definitive scientific evidence linking it with FH was found, called a “pathogenic variant”. You should talk with your doctor or cardiologist about managing your risk for high cholesterol. Consulting with a genetic counselor may also be helpful.

We all have unique variations in our DNA, and lots of them have not been seen before. There may be variants found in your DNA that haven’t been categorized. Some may cause FH, while others may just be a normal version of the gene that scientists simply haven't seen before. We refer to these as "variants of unknown significance,” or VUSs. For these products, VUSs are not reported since we do not have enough evidence to know which will increase risk for the condition. As our understanding of VUSs improves over time, this product may become more comprehensive as we learn which VUSs do and do not increase risk for FH.

You may learn something that you did not want to know. For example. in some cases as other relatives pursue testing to learn if they have the same genetic variant, an individual may learn that one or both of his or her parents are not biologically related to him or her.


About your family

If you are found to have a variant in one of the FH genes, it is important to realize that your family members are also at risk for having the same variation. For example, your first-degree relatives - children, siblings, and parents - will have a 50% (or 1 in 2) chance of having the same variation that puts them at risk for FH.

If you are not found to have a variant in one of the FH genes, depending on your personal and family medical history, you or your relatives may still be at risk for high cholesterol. You should consult with your doctor or a genetic counselor to understand more about whether additional testing or screening may be beneficial to you or your family.

While the Inherited Cholesterol Test powered by Helix cannot be offered to those under 18 at this time, some variants that this test may discover could potentially cause high cholesterol in someone under 18. If you are interested in obtaining testing for a relative under the age of 18, we recommend discussing this with your physician or genetic counselor to determine what additional testing options are available.


Next Steps

You will be notified when your results are ready. You will be able to login to view your results through the Admera website. If you are found to have a genetic variant for cardiovascular disease, a genetic counselor will reach out to you to discuss your results. Genetic counselors can help you understand your results and what it means for you and your family. If you are not found to have a genetic variation for inherited cardiovascular disease, you may still be contacted by a genetic counselor, especially if you indicated you have a personal or family history of cardiovascular disease to discuss testing options and other next steps.

You may also want to share your results with your healthcare provider, and in some cases your results may require follow up with a cardiologist or other specialist.

Results from this test(s) are treated with complete confidentiality in accordance with HIPAA. Reports are rendered only to the customer.


I have read this consent form or have had the form read to me. I understand the purpose, risks, benefits, and limitations of this test. I agree with the contents of this form. I want to have this genetic test done.




Inherited Diabetes Test Product Consent

Table of Contents


Glossary

  • Autosomal Dominant: genetic condition where a variation in one of the two genes passed from your parents is enough to cause the disease. First degree relatives including parents, siblings, and children all have a 50% (1 in 2) chance of having the same variation.

  • Endocrinologist: a physician who specializes in treating disorders of the endocrine system, such as diabetes, hyperthyroidism, and other hormone-related diseases.

  • Genes: Sections of DNA that program, or “code,” for one or more traits. For instance, one gene could code for a certain type of cell in a person’s eye, or it could code for cells in the eye, heart, and liver.

  • Genetic Counselor: Genetic counselors have advanced training in medical genetics and counseling to interpret tests results and guide and support patients seeking more information about how inherited diseases and conditions might affect them or their families.

  • Mature Onset Diabetes of the Young (MODY): genetic form of diabetes that is often misdiagnosed as Type 1 or 2 Diabetes, is completely due to genetic factors, where a single genetic variation can cause the disease.

  • Pathogen: a disease-causing agent

  • Variant: In the context of this test, a variant is a change in a gene that can lead to increased odds, and sometimes a near certainty, that a person will experience a certain health problem1


About this Test

According to the CDC, 29.1 million people in the United States have diabetes. One to five percent (1-5%) of people with diabetes have an inherited form of diabetes called Mature Onset Diabetes of the Young (MODY). This type of diabetes is completely due to a single genetic variation. MODY usually develops before age 25, but because it is so widely underdiagnosed, it can be uncovered at any age.

The Inherited Diabetes Test is intended to provide you with information about whether you carry a genetic variant(s) that can cause this inherited form of diabetes. For many people diagnosed with MODY (instead of having a diagnosis of type I diabetes in which insulin is the mainstay treatment), they may not need insulin and can be treated with oral medicines, or possibly diet.

People who have or are positive for one or more variants in the genes included in this product should contact their healthcare provider to learn about ways to screen, prevent, diagnose, or treat their diabetes. This information could also be useful for biological relatives, as their DNA may have the same variant(s).


Background and Limitations

Genes are portions of DNA, like chapters in a book. Some genes, when they have a variant, only affect one organ, trait, or symptom, such as how much insulin the body generates to regulate blood sugar levels. Other genes can affect multiple organs, traits, or symptoms. unlike many people with the common form of diabetes, people with MODY may not have obesity.

The Inherited Diabetes Test checks the most common genes linked to MODY: ABCC8, BLK, CEL, GCK, HNF1A, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, TCF2. However, it does not check all gene variants, or changes, linked to MODY. For example, within the ABCC8 gene, this product will not be able to check for certain types of genetic variations that are known to cause MODY. These are known as copy number variants (CNVs) or large rearrangements. These variants account for a small number of cases and can be tested for in more comprehensive clinical testing panels that your physician or a genetic counselor can discuss with you.

We are always working to improve our products with research and development. We may use your de-identified sample in these efforts. We do not share in the profits from this research with our customers. But, our customers may benefit from improved products that come from the research.

We may choose to perform research that may be published in academic journals. We will only use your data for such research if you give us your consent. We will ask for that consent through our Research Consent. That Research Consent will have been approved by an Institutional Review Board (IRB). You can choose to decline taking part in this research. Your choice will not affect any services or opportunities you may otherwise be entitled to.


What you may learn

This product generates three possible result outcomes based on whether any variants are identified:

  • No Mutation Found. This means we did not identify a genetic variant in the genes tested that have been shown to cause MODY or other rare forms of inherited diabetes. Your genetic risk of having MODY is low, but not zero since there are other, rare causes of inherited diabetes that are not included in this product.

  • Likely pathogenic. A variant that has strong evidence linking it with MODY has been found, called a “likely pathogenic variant”. You should talk with your doctor or an endocrinologist, a specialist in diabetes, about managing your diabetes differently based on the results of this test. Consulting with a genetic counselor may also be helpful.

  • Pathogenic. A variant that has definitive scientific evidence linking it with MODY was found, called a “pathogenic variant”. You should talk with your doctor or an endocrinologist, a specialist in diabetes, about managing your diabetes differently based on the results of this test. Consulting with a genetic counselor may also be helpful.

We all have unique variations in our DNA, and lots of them have not been seen before. There may be variants found in your DNA that haven’t been categorized. Some may cause MODY, while others may just be a normal version of the gene that scientists simply haven't seen before. We refer to these as "variants of unknown significance,” or VUSs. For these products, VUSs are not reported since we do not have enough evidence to know which will increase risk for the condition. As our understanding of VUSs improves over time, this product may become more comprehensive as we learn which VUSs do and do not increase risk for MODY.

You may learn something that you did not want to know. For example. in some cases as other relatives pursue testing to learn if they have the same genetic variant, an individual may learn that one or both of his or her parents are not biologically related to him or her.


About your family:

If you are found to have a variant in one of the MODY genes, it is important to realize that your family members are also at risk for having the same variation. For example, your first-degree relatives - children, siblings, and parents - will have a 50% (or 1 in 2) chance of having the same variant that puts them at risk for MODY.

If you are not found to have a variant in one of the MODY genes, depending on your personal and family medical history, you or your relatives may still be at risk for diabetes. You should consult with your doctor or a genetic counselor to understand more about whether additional testing or screening may be beneficial to you or your family.

While the Inherited Diabetes Test powered by Helix cannot be offered to those under 18 at this time, some variants that this test may discover could potentially provide risk assessment for MODY in someone under 18. If you are interested in obtaining testing for a relative under the age of 18, we recommend discussing this with your physician or genetic counselor to determine what additional testing options are available.


Next Steps

You will be notified when your results are ready. You will be able to login to view your results through the Admera website. If you are found to have a genetic variant for inherited diabetes, a genetic counselor may reach out to you to discuss your results. Genetic counselors can help you understand your results and what it means for you and your family. If you are not found to have a genetic variation for inherited diabetes, you may still be contacted by a genetic counselor, especially if you indicated you have a personal or family history of diabetes to discuss testing options and other next steps.

You may also want to share your results with your healthcare provider, and in some cases, your results may require follow up with an endocrinologist or other specialist.

Results from this test(s) are treated with complete confidentiality in accordance with HIPAA. Reports are rendered only to the customer.


I have read this consent form or have had the form read to me. I understand the purpose, risks, benefits, and limitations of this test. I agree with the contents of this form. I want to have this genetic test done.



  1. Medical providers use a specific system for classifying variants. Anything that we refer to as a "variant" in this panel is considered a "pathogenic variant" or a "likely pathogenic variant" in that system.