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Learn about the genetic profile of your MMA or PA Disease

HemoShear Therapeutics has partnered with Genome Medical to provide genetic testing and expert genetic counseling at no charge to participants in the JUMP (Journey to Understand MMA and PA) study. The JUMP study aims to:

Understand the diagnosis and medical journeys of patients living with MMA and PA

Learn about laboratory testing, medical and dietary interventions of MMA and PA patients

Understand MMA and PA symptoms, health complications and other disease-related conditions

Track the progression of symptoms and medical treatment as patients grow over time

Getting genetic testing through Genome Medical will enable you to understand the genetic mutation that causes your type of methylmalonic acidemia (MMA) or propionic acidemia (PA). Knowing the genetic mutations (whether from the MMUT, MMAA or MMAB gene or PCCA or PCCB) can help the impacted person, their caregivers and healthcare professionals understand the potential course of disease and select approaches to better manage the disease.

The Genome Medical care team features top genetic experts and primary care MDs – all dedicated to helping accelerate the integration of genetics into everyday health care. In addition to testing, Genome Medical’s genetic counselors can provide guidance and support throughout the process.

Program Eligibility

Any participant in the JUMP program that has not had previous genetic testing.

Get Started With a 1-on-1 Video or Phone Consultation

With Genome Medical, you can simply schedule your consultation with a certified genetic counselor online and attend from the comfort of your own home

Schedule Now
Applicable to US Residents Only

Learn about the genetic profile of your MMA or PA Disease

HemoShear Therapeutics has partnered with Genome Medical to provide genetic testing and expert genetic counseling at no charge to participants in the JUMP (Journey to Understand MMA and PA) study. The JUMP study aims to:

Understand the diagnosis and medical journeys of patients living with MMA and PA

Learn about laboratory testing, medical and dietary interventions of MMA and PA patients

Understand MMA and PA symptoms, health complications and other disease-related conditions

Track the progression of symptoms and medical treatment as patients grow over time

Getting genetic testing through Genome Medical will enable you to understand the genetic mutation that causes your type of methylmalonic acidemia (MMA) or propionic acidemia (PA). Knowing the genetic mutations (whether from the MMUT, MMAA or MMAB gene or PCCA or PCCB) can help the impacted person, their caregivers and healthcare professionals understand the potential course of disease and select approaches to better manage the disease.

The Genome Medical care team features top genetic experts and primary care MDs – all dedicated to helping accelerate the integration of genetics into everyday health care. In addition to testing, Genome Medical’s genetic counselors can provide guidance and support throughout the process.

Program Eligibility

Any participant in the JUMP program that has not had previous genetic testing.

Get Started With a 1-on-1 Video or Phone Consultation

With Genome Medical, you can simply schedule your consultation with a certified genetic counselor online and attend from the comfort of your own home

Schedule Now
Applicable to US Residents Only

How It Works

What to Expect from a
Pre-Test Consultation

Initial consultation icon

Pre-test consultation

You can talk with a genetic counselor by phone or video before your test is ordered. We review your personal and family health history, answer any questions you may have, and confirm that the participant has not had genetic testing conducted previously.

Genetic testing icon

Easy ordering

If you are a participant in JUMP and have never had genetic testing for MMA or PA, then your order will be placed by one of our physicians at no cost. We will also coordinate the convenient collection of a DNA sample.

Testing at home

After the saliva testing kit arrives, complete the test kit instructions and provide a saliva sample. Mail the test kit back in the pre-paid envelope. Results will be ready in about 10-21 days.

Results review icon

RESULTS CONSULTATION

You can review test results with a genetic counselor free of charge. During this phone or video session, you can discuss the results of the test, how you can share this information with health professionals and answer any questions you may have.

Integration icon

Ongoing care

Our genetic counselors can offer personalized insights and a results summary.

What to Expect from a
Pre-Test Consultation

Initial consultation icon

Pre-test consultation

You can talk with a genetic counselor by phone or video before your test is ordered. We review your personal and family health history, answer any questions you may have, and confirm that the participant has not had genetic testing conducted previously.

Genetic testing icon

Easy ordering

If you are a participant in JUMP and have never had genetic testing for MMA or PA, then your order will be placed by one of our physicians at no cost. We will also coordinate the convenient collection of a DNA sample.

Testing at home

After the saliva testing kit arrives, complete the test kit instructions and provide a saliva sample. Mail the test kit back in the pre-paid envelope. Results will be ready in about 10-21 days.

Results review icon

RESULTS CONSULTATION

You can review test results with a genetic counselor free of charge. During this phone or video session, you can discuss the results of the test, how you can share this information with health professionals and answer any questions you may have.

Integration icon

Ongoing care

Our genetic counselors can offer personalized insights and a results summary.

Why Genetic Testing?

Genetic testing can help you learn more about your disease, possible treatment options and more.

Identify the genetic mutation that is causing the participant’s MMA or PA.

Help your family members be able to genetically screen to determine whether they are carriers for MMA or PA.

Help you make informed choices about your healthcare.

Better understand your options for taking part in clinical research.

Frequently Asked Questions

Why is Hemoshear Therapeutics sponsoring no-cost testing for qualified patients?

The JUMP (Journey to Understand MMA and PA) Study is being conducted by HemoShear Therapeutics and AllStripes, a rare disease online research platform. JUMP is designed to accelerate understanding of the natural course of methylmalonic acidemia (MMA) and propionic acidemia (PA) disease and treatment for families, researchers, clinicians and industry.

Who is Genome Medical?

Genome Medical is the first nationwide specialty medical practice that is focused on genetics. The Genome Medical team features top genetic experts and primary care MDs—all dedicated to helping accelerate the integration of genetics into everyday health care.

Will I be charged for this test and the genetic counseling?

If you qualify, there’s no cost for the genetic test and the genetic counseling for the JUMP program.

What is a genetic counselor?

A genetic counselor is a genetic expert that can help you understand how genetics impacts your health, whether genetic testing is right for you and what tests might be most appropriate. A genetic counselor is specially trained to understand the complexities of genetic tests and how to interpret an individual’s unique results.

Why should I consult with one of the genetic counselors and what are their qualifications?

Genome Medical’s national network of genetic experts includes both medical geneticists and genetic counselors. Your consultation will most likely be with a genetic counselor who is a medical provider specially trained to understand the complexities of genetic tests and how to interpret you and your child’s unique results. In certain cases, you may also work with a medical geneticist, a physician trained in general medicine, genetic diagnosis and the treatment of patients with genetic disorders.

What is genetic testing?

To learn about DNA, it helps to start with our genes. We inherit our genes from our parents. Genes contain instructions for all of our traits – such as hair color, eye color, aspects of our health – many things that make us who we are. Although we can’t see them, genes are in the millions of cells throughout our bodies. Genes are found in structures called chromosomes, which are also in our cells.

Genes are made up of chemical building blocks called DNA, abbreviated as “A,” “C,” “T” and “G,” which are spelled in a very specific order to make up a gene. Since genes have instructions for our health, small changes in the way our DNA is spelled in a gene – like a typo – can impact our health. These small changes are called DNA variants.

One type of genetic testing is called DNA sequencing, which studies the DNA within our genes to look for DNA variants. Some DNA variants cause minor traits in us, like the color of our eyes. Other DNA variants can impact our health, such as DNA variants that cause us to have an increased risk for cancer.

Genetic testing looks for DNA variants to figure out a genetic cause or risk for health problems. Knowing if you or your child’s health problems have a genetic cause and the health risks can help you and your doctors better understand the prognosis, ensure the appropriate treatments are in place, and learn about family planning implications.

What are the risks of this test? How will my privacy be protected?

You should weigh the risks and the benefits before agreeing to have this test. Risks include:

  • Unexpected information may be uncovered by your genomic test. We will focus on what is useful to you and provides you the best health care. However, situations such as non-paternity, adoption and unexpected risks or diagnoses could be recognized when your information is viewed along with genetic information from other family members.
  • Genetic testing can have emotional effects, especially when a DNA change is found that predicts a serious disease. Genetic counselors are trained to help you understand and process those emotions and your options.
  • Some people are concerned about having their genetic information revealed for others to use against them. Since this test is a clinical test, the results stored in your health record are protected by health information privacy laws, especially the Health Information Portability and Accountability Act (HIPAA).
  • During the consent process, you will have the opportunity to discuss the risks of having your genetic information stored in your health record, the laws that currently prohibit genetic discrimination in certain businesses and their limitations.

How will Hemoshear and AllStripes keep patient’s data safe and confidential?

Only properly trained and authorized AllStripes personnel will have access to patient medical information for processing purposes. AllStripes follows strict policies and procedures to ensure that patient information is protected. To view the full AllStripes Privacy Policy, visit https://www.allstripes.com/privacy.

Patients’ secure accounts are not accessible to others, unless the patient chooses to share the account with caregivers or their doctors. If a patient (or their legally authorized representative) chooses to participate in AllStripes research through proper informed consent, AllStripes will only share deidentified data with qualified researchers.

What is MMA and PA?

Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic conditions. Inherited metabolic disorders are genetic conditions that result in problems with metabolism. Metabolism refers to all how the body processes or uses energy sources, like proteins and fats. Because the body has problems processing energy sources, it can lead to a build up of these substances that can become toxic to the body and cause illness, referred to as decompensation. Decompensation typically happens when an individual is sick or the body is stressed. Decompensation typically presents shortly after a baby is born and can lead to poor feeding, vomiting, trouble breathing, low muscle tone (hypotonia), seizures, and lack of energy (lethargy). Without treatment, individuals may develop organ damage, developmental and/or intellectual delays.

How long will it take to schedule an appointment with a genetic expert?

You can schedule an appointment at your convenience, generally within 1-2 business days.

What should I expect during the pre-test consultation?

During the pre-test consultation, you’ll meet with a Genome Medical board-certified genetic counselor via video or phone to discuss your or your child’s condition. The genetic counselor will answer any questions you may have, collect your or your child’s personal family health history, and confirm that you or your child qualifies for no-cost, sponsored testing.

How should I prepare for the consultation?

Prior to your scheduled consultation, it would be helpful to think about the reasons for pursuing testing, and if you have any concerns regarding your or your child’s family history that you were hoping to address. Please try to find out as much information as you can about your or your child’s family health history before the appointment and share that information with the genetic counselor.

What should I expect during the post-test consultation?

During your post-test consultation you have the option to meet with a Genome Medical board certified genetic counselor via video or phone. Your genetic counselor will:

  • Review your genetic test results and personal and family history
  • Provide a clear understanding of what your results mean for you and your family
  • Develop a results summary for your ongoing care that you can share with your physician
  • Learn about recommended next steps

How long after I give my sample will my results be available?

In most cases, test results will be available in approximately 2-3 weeks.

How do I receive my results report?

Genome Medical will contact you via email or phone once your results are ready. At that time, we encourage you to schedule a post-test consultation to review the test results to better understand what the results mean for you and your family.

What information is included in my summary results report?

A results summary is provided to you once results are complete. This is a written summary of the results and guidance on any actionable insights.

What happens if results come back negative?

If results are negative, we will send you a letter and a results summary. A follow-up consultation is available if you have questions regarding any of the test results.

What are the possible results from genetic testing?

A positive result means that a genetic change associated with the disease has been found. Depending on the gene, this result may have a small or large impact on your risk of disease. A negative result means that no genetic change associated with the disease has been found.

A negative result does not completely eliminate the chance that you have an inherited risk for a disease, it simply means that we were not able to identify a genetic risk factor based on the genes tested at this time.

A variant of uncertain significance (VUS) is a genetic change which has uncertain meaning. While some genetic variants are considered harmful, or disease-causing (also called pathogenic), other variations in genes are considered non-harmful and do not cause a genetic condition (also called benign). A VUS means that there is not enough available information regarding a particular variant to know if it is disease-causing or not. Generally, medical management and family risk assessment should not be based on a VUS test result. This type of result cannot independently confirm or provide a diagnosis. While it’s common for a variant to be considered a VUS at the time of a person’s genetic test report, it is possible that more information/evidence regarding the variant may become available over time, as more individual’s have genetic testing including the gene and potentially more research is published. Your genetic counselor can review any additional pertinent details about a VUS on your test report in relation to your medical and family history details.

How should my physician be involved?

We recommend sharing your results summary with your physician so that the physician can manage any recommendations regarding the results. Your physician can also contact Genome Medical if there are any questions regarding the recommendations or results.

From Trusted Experts

No-cost testing

HemoShear Therapeutics is driven to apply scientific insights to develop medicines that improve the lives of patients with rare metabolic diseases. HemoShear has a drug in clinical development for methylmalonic acidemia (MMA) and propionic acidemia (PA).

Clinical-grade testing

Invitae’s industry-leading labs are equipped with best-in-class technology, staffed by some of the world’s top genetics experts, and have delivered over a million results — and counting.

Expert genetic counseling

Provided by top genetic experts at Genome Medical, dedicated to helping accelerate the integration of genetics into everyday health care.

Empowering research

As the leading research platform dedicated to rare diseases, AllStripes makes it easy for patients to contribute to new treatment studies from home. We do the work to collect and analyze de-identified medical records to help power faster, better drug development for rare conditions. We also work with partners like HemoShear and Genome Medical to collect critical additional information needed to move research forward.

From Trusted Experts

No-cost testing

HemoShear Therapeutics is driven to apply scientific insights to develop medicines that improve the lives of patients with rare metabolic diseases. HemoShear has a drug in clinical development for methylmalonic acidemia (MMA) and propionic acidemia (PA).

Clinical-grade testing

Invitae’s industry-leading labs are equipped with best-in-class technology, staffed by some of the world’s top genetics experts, and have delivered over a million results — and counting.

Expert genetic counseling

Provided by top genetic experts at Genome Medical, dedicated to helping accelerate the integration of genetics into everyday health care.

Empowering research

As the leading research platform dedicated to rare diseases, AllStripes makes it easy for patients to contribute to new treatment studies from home. We do the work to collect and analyze de-identified medical records to help power faster, better drug development for rare conditions. We also work with partners like HemoShear and Genome Medical to collect critical additional information needed to move research forward.

More Questions? No Problem!

Do you want more clarification before committing to a consultation? We are here to help.

More Questions? No Problem!

Do you want more clarification before committing to a consultation? We are here to help.

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