Genetic Testing
Understand genetics and treatment relevance
Review status: Waiting for team review. An AI editorial check was completed on 2026-08-14 by claude-opus-5. It checks clarity, attribution and scope against the sources, and it is not a Compass team or clinical sign-off. Waiting for clinical review. Last updated 2026-08-14.
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Planning 3
- Decide whether testing is relevantAsk how a result might affect treatment, trial eligibility, or your family.Why it matters: Genetic testing answers some questions and raises others, so it is worth being clear which you want answered.
- Review family historyNote any ALS/MND, frontotemporal dementia, or related conditions in relatives.Why it matters: Family history shapes both whether testing is offered and how a result is interpreted.
- Plan the testing pathwayClarify who orders the test, how long results take, and who explains them.Why it matters: Knowing that counselling comes with the result matters as much as the test itself.
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Genetic testing looks at your genes to see whether a known genetic change linked to ALS/MND is present. To make sense of it, it helps to understand how genetics fits into ALS/MND.
Is ALS/MND inherited?
- For most people, ALS/MND is not inherited. It occurs without a clear family history, and is often called "sporadic". Most people with ALS/MND have no other affected family members.
- For a smaller number, there is a genetic (inherited) form, sometimes called familial MND, where a genetic change linked to the condition runs in the family.
- Several specific genes have been linked to ALS/MND, and research continues to find more. A genetic change can sometimes be found even without an obvious family history, and sometimes no known genetic cause is found even where the condition seems to run in a family.
(The exact proportions and gene details are matters for a clinician or genetic counsellor to explain for your situation. The wording here stays general, and your team can give accurate, personalised information.)
What genetic testing involves:
- Usually a blood (or saliva) sample, analysed to look for known genetic changes linked to ALS/MND.
- Genetic counselling before and after (covered later). This is a crucial part, not an optional add-on, because results carry meaning for you and your family.
Why it can matter:
- It may help understand the cause of the condition in you.
- It can have implications for family members, which is why it is approached carefully and with counselling.
- It may be relevant to some treatments or trials, as research increasingly looks at specific genetic forms (covered next).
This is a sensitive area, and entirely your choice to explore. This card explains why someone might test, the implications, why counselling is central, and how to access it. The next question looks at what testing could tell you.
Explained: what this word meansEvidence for this answer
The sources the Compass team used to write this answer. Highlighted phrases in the answer above correspond to the statements below.
Statement 1 of 3. Most people with ALS/MND do not have an inherited form of the condition.
Supports this. Familial MND and genetic testing — MND Australia · Practical guide · April 2026
Puts inherited MND at around 15% of people diagnosed, which leaves the large majority without a gene change passed down from a parent.
“In around 15% of people diagnosed with MND, a gene change is present and inherited from a parent.”
Familial or inherited MNDLink checked August 2026
Supports this. ALS Genetic Testing and Counseling — Your ALS Guide · Practical guide
Its own summary of the page states the same thing in plainer terms, and the page opens by saying the cause is unknown for most people diagnosed with ALS.
“The majority of people diagnosed with ALS do not have a genetic form of ALS.”
In Summary...Link checked August 2026
Statement 2 of 3. A genetic change is sometimes found in people with no family history, and sometimes no known cause is found in families where the condition recurs.
Supports this. ALS Genetic Testing and Counseling — Your ALS Guide · Practical guide
Gives figures for both halves. A genetic cause is found about 10% of the time when there is no family history of ALS, frontotemporal dementia or related conditions, and about 70% of the time when there is a clear family history, which leaves roughly three in ten of those families with no cause found.
“When a person has no family history of ALS, frontotemporal dementia (FTD), or related conditions, a genetic cause can be found about 10% of the time.”
Genetic ALSLink checked August 2026
Supports this. Evidence-based consensus guidelines for ALS genetic testing and counseling — ALS Genetic Testing and Counseling Guidelines Expert Panel · Clinical guideline · September 2023
The consensus guideline says current testing still fails to find a cause in a large share of families, and separately recommends counselling for everyone with ALS whether or not there is a family history, because variants are found in a meaningful minority of people who have none.
“Current genetic testing fails to identify a genetic etiology in a significant proportion of familial cases, indicating that additional, unknown genetic mechanisms contribute to the etiology of ALS.”
Recommendation 24Link checked August 2026
Statement 3 of 3. Genetic counselling alongside testing is a core part of the process rather than an optional extra.
Supports this. Evidence-based consensus guidelines for ALS genetic testing and counseling — ALS Genetic Testing and Counseling Guidelines Expert Panel · Clinical guideline · September 2023
The consensus guideline makes counselling a recommendation in its own right, offered to everyone with ALS regardless of family history, and says it should cover the nature of inheritance, the testing options and what a result would mean for relatives.
“All persons with ALS should be offered genetic counseling, irrespective of the presence or absence of a family history of ALS.”
Recommendation 8Link checked August 2026
Used across the whole answer
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People consider genetic testing for different reasons, and it is genuinely a personal decision. There are good reasons some people test, and good reasons others choose not to. Understanding what it could (and could not) tell you helps you decide.
Reasons people consider testing:
- Understanding the cause. Some people want to know whether there is a genetic explanation for their ALS/MND.
- Implications for family. If a genetic change is found, it may have meaning for relatives. Some people test partly to give family information, or because family members want to understand their own situation. (This cuts both ways. See the implications question.)
- Relevance to treatment and trials. This is increasingly important: research is developing treatments and clinical trials aimed at specific genetic forms of ALS/MND. For some genetic changes, knowing your status may open access to particular trials or targeted approaches. Your team can tell you whether this applies to you. (A clinician should confirm what is currently relevant; this evolves.)
- Family planning. For some people and families, genetic information is relevant to decisions about having children. This is an area where genetic counselling is especially important.
- A wish to know. Some people simply prefer to have the information.
Reasons people choose not to test, or to wait:
- Preferring not to know, or not wanting genetic information about themselves or implications for family. This is a completely valid choice.
- The emotional weight of results, for themselves and relatives.
- Concerns about privacy or insurance, which vary by location. See the implications question.
- Feeling it would not change their decisions right now.
What testing can and cannot tell you:
- It can identify a known genetic change if one is present and is one the test covers.
- It usually cannot predict how the condition will progress. For a small number of gene changes more is known, so ask your team what applies to you.
- A result may be uncertain. Sometimes a change of unclear significance is found, which is itself something to weigh.
There is no right answer, and you do not have to decide alone or quickly. Genetic counselling (covered shortly) exists precisely to help you think it through. The next question looks at the implications for you and your family.
Explained: what this word meansEvidence for this answer
The sources the Compass team used to write this answer. Highlighted phrases in the answer above correspond to the statements below.
Statement 1 of 4. For some genetic changes, knowing your result can open access to particular clinical trials or gene-targeted treatments.
Supports this. Evidence-based consensus guidelines for ALS genetic testing and counseling — ALS Genetic Testing and Counseling Guidelines Expert Panel · Clinical guideline · September 2023
The consensus guideline recommends that anyone found to have a disease-causing variant is told about approved or investigational treatments aimed at their particular gene, and about relevant trials and observational studies. It expects such opportunities to grow.
“Persons with ALS identified to have a pathogenic or likely pathogenic variant should be informed of FDA-approved or investigational therapies which are targeted to their particular gene; opportunities for gene-targeted interventions are likely to increase in coming years.”
Recommendation 23Link checked August 2026
Adds context. FDA approves treatment of amyotrophic lateral sclerosis associated with a mutation in the SOD1 gene — U.S. Food and Drug Administration · Official clinical information · April 2023
One worked example rather than a general picture. The US regulator approved a treatment only for ALS caused by a fault in the SOD1 gene, and the trial running to confirm its benefit is open only to people who carry that gene change. That is roughly 2% of ALS, and it is a United States decision that says nothing about what is available elsewhere.
“To confirm the clinical benefit of Qalsody, a Phase 3 randomized, double-blind, placebo-controlled trial is ongoing in individuals who are carriers of the SOD1 genetic mutation who do not yet have symptoms.”
EffectivenessLink checked August 2026
Statement 2 of 4. A genetic test result usually does not tell you how ALS/MND will progress for you.
Supports this. Evidence-based consensus guidelines for ALS genetic testing and counseling — ALS Genetic Testing and Counseling Guidelines Expert Panel · Clinical guideline · September 2023
The consensus guideline says a result does not allow prediction of disease course in most cases, with some notable exceptions. It describes links between gene and disease course as trends in grouped data with low predictive value for an individual.
“When a pathogenic or likely pathogenic variant is identified, persons with ALS should understand that the genetic result does not allow prediction of disease course in most cases.”
Recommendation 21Link checked August 2026
Statement 3 of 4. Testing can return an uncertain result, where a change of unclear significance is found.
Supports this. Evidence-based consensus guidelines for ALS genetic testing and counseling — ALS Genetic Testing and Counseling Guidelines Expert Panel · Clinical guideline · September 2023
The consensus guideline treats an uncertain result as a common outcome rather than a rare one. It recommends preparing people for it before testing, and telling them afterwards that such a change may or may not be contributing to their ALS.
“A significant proportion of patients who undergo ALS genetic testing will receive an uncertain result.”
Recommendation 25Link checked August 2026
Statement 4 of 4. For some people, a genetic test result is relevant to decisions about having children.
Supports this. ALS Genetic Testing and Counseling — Your ALS Guide · Practical guide
Names reproductive planning as one of the reasons people test, because there are reproductive options that can avoid passing on a genetic change while still having a biologically related child.
“Reproductive planning can be a motivation for testing because there are alternative reproductive methods that can help avoid passing down genetic risk while still having a biologically related child.”
Testing considerations for people who are at riskLink checked August 2026
Adds context. Familial MND and genetic testing — MND Australia · Practical guide · April 2026
Sets out what those options are: testing embryos through IVF, testing during pregnancy, donor eggs or sperm, and having children without testing. It also describes exclusion testing, for someone who wants to protect a future child without learning their own status. The services and funding it describes are Australian.
“If you don't want to know if you have inherited the gene change, exclusion testing may be an option.”
I don't want to know if I carry my family's gene change. Can I still access testing to inform family planning?Link checked August 2026
Used across the whole answer
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Genetic testing is different from most medical tests because the result can have meaning not just for you, but for your relatives. That is why it deserves careful thought and proper counselling. None of this is meant to discourage you; it is to help you go in with eyes open.
Implications for you:
- Emotional impact. A result, whatever it shows, can bring a range of feelings, from relief to distress. Knowing, or not knowing, can each weigh on people differently.
- Uncertainty. Results are not always clear-cut, and a finding may raise new questions.
- Privacy and insurance. In some places, genetic information could have implications for things like insurance or other matters; protections and rules vary a lot by country. This is worth understanding before testing, and a genetic counsellor can explain what applies where you live.
Implications for your family:
- Relatives may be affected by the information. If a genetic change is found in you, it may mean relatives could carry it too. That is information some family members may want, and others may not.
- The right not to know. Each person has the right to choose whether to know their own genetic information. Your decision to test, and any result, can affect relatives' ability to make that choice for themselves. It is something families often think through together.
- Predictive testing for relatives. Adult family members who do not have ALS/MND may be able to be tested to learn whether they carry a genetic change. This is usually only available where a gene change is already known in the family. It is a profound decision with its own emotional weight, always approached with genetic counselling. This is their choice to make.
- Different family members may feel differently, which can be complex. Open, sensitive communication helps (see the family communication card), and counsellors can support these conversations.
Why none of this should be faced alone:
- These implications are exactly why genetic counselling is central (the next question). Counsellors help you understand what a result would mean for you and your family, and support you in deciding and, if you test, in sharing information.
- There is no obligation. You can decide not to test, or to take your time. Choosing not to know is as valid as choosing to know.
Because the personal, family, legal and privacy implications are significant and partly depend on where you live, this is a decision to make with proper support. The next question explains why genetic counselling matters so much.
Explained: what this word meansEvidence for this answer
The sources the Compass team used to write this answer. Highlighted phrases in the answer above correspond to the statements below.
Statement 1 of 3. If a genetic change is found in you, relatives may carry the same change.
Supports this. ALS Genetic Testing and Counseling — Your ALS Guide · Practical guide
Says a positive result in someone who has ALS has implications for their relatives, and that for most genetic forms of ALS children and siblings have a one in two chance of having inherited the same change.
“For most genetic forms of ALS, this would mean that children and siblings have a 50% chance of inheriting the same variant.”
Who could have genetic ALS?Link checked August 2026
Qualifies this. Evidence-based consensus guidelines for ALS genetic testing and counseling — ALS Genetic Testing and Counseling Guidelines Expert Panel · Clinical guideline · September 2023
Adds a limit the sentence does not carry. Many ALS gene changes are incompletely penetrant, so a relative who has inherited one will not necessarily develop the condition, and the guideline says counselling should convey how variable and uncertain that is.
“Many ALS variants are incompletely penetrant, meaning that not all carriers of the variant will develop disease.”
Recommendation 15Link checked August 2026
Statement 2 of 3. Legal protections around genetic information, including its use by insurers, differ a great deal between countries.
Adds context. ALS Genetic Testing and Counseling — Your ALS Guide · Practical guide
Shows what one country's rules look like. In the United States, health insurers and most employers cannot use a positive genetic test against someone, but life, disability and long-term care insurers can, and employers with fewer than 15 staff sit outside the law.
“Health insurance companies and most employers cannot discriminate against people who have tested positive, but life insurance, disability insurance, and long-term care insurance companies can decline services based on genetic status.”
Genetic DiscriminationLink checked August 2026
Adds context. Familial MND and genetic testing — MND Australia · Practical guide · April 2026
Shows a different country at a different point. Australia legislated in April 2026 to stop life insurers refusing cover or charging more because of a genetic test result, the ban starts in October 2026, and until then only cover below a set amount is protected.
“The Australian Government passed legislation to ban life insurers from refusing cover or increasing charges due to genetic test results in April 2026.”
Life insuranceLink checked August 2026
Statement 3 of 3. Adult relatives who do not have ALS/MND may be able to have predictive testing to find out whether they carry a genetic change, and it is usually only available where a gene change is already known in the family.
Supports this. Evidence-based consensus guidelines for ALS genetic testing and counseling — ALS Genetic Testing and Counseling Guidelines Expert Panel · Clinical guideline · September 2023
The consensus guideline says adult relatives are candidates for testing before any symptoms, that it is their own choice, and that it should be done with proper genetic counselling.
“Adult relatives are candidates for presymptomatic testing, which is a personal choice and should be performed with appropriate genetic counseling.”
Recommendation 22Link checked August 2026
Supports this. Familial MND and genetic testing — MND Australia · Practical guide · April 2026
Carries the precondition the statement now states. Predictive testing is usually only available where a gene change is already known in the family, and only a trained genetic specialist can order it. Where there is a family history but no known gene change, counselling may still be available to discuss risk. It gives no age for who can be tested.
“Predictive genetic testing is usually only accessible when there is a known MND-related gene change in the family.”
Predictive genetic testing and MNDLink checked August 2026
Used across the whole answer
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Genetic counselling is the support that should go hand in hand with genetic testing, before and after. It is a central part of doing this well, not an optional extra. A genetic counsellor (or a clinician with this expertise) helps you navigate the decision and the results.
What genetic counselling provides:
- Information you can understand. A counsellor explains, in plain terms, what testing can and cannot tell you, what the genetics mean, and what a result would imply for you and your family.
- Help deciding whether to test. Crucially, good genetic counselling is non-directive. The counsellor does not push you toward or away from testing. They help you weigh it and reach the choice that is right for you, including choosing not to test.
- Thinking through the implications. Together you can consider the emotional impact, the family implications, the right not to know, and any privacy or insurance considerations where you live, all before you decide.
- Support around results. After testing, a counsellor helps you understand the result (including uncertain ones), process how you feel, and think through what it means and what to do next.
- Help with family. Counsellors can support you in deciding what to share with relatives and how, and relatives can have their own counselling if they are considering testing.
Why "before and after" matters:
- Before: it ensures any decision to test is truly informed, and that you are prepared for the possible results and their meaning.
- After: it ensures you are supported with whatever the result brings, rather than left to make sense of it alone.
In short: genetic counselling exists to make sure this powerful information helps rather than harms. It is there so you decide freely, understand fully, and are supported throughout. Because of everything genetic results can mean, testing should always go together with counselling, and reputable services provide it as standard.
The next question covers how to access genetic testing and counselling.
Explained: what this word meansEvidence for this answer
The sources the Compass team used to write this answer. Highlighted phrases in the answer above correspond to the statements below.
Statement 1 of 3. A genetic counsellor helps you weigh the decision and reach your own choice, including the choice not to test.
Supports this. ALS Genetic Testing and Counseling — Your ALS Guide · Practical guide
Describes counsellors as guiding and supporting you from the very beginning of thinking about whether testing is right for you, and says plainly that you can speak to one and then decide against testing.
“You can always speak with a genetic counselor to learn more and then decide that you don't want to test.”
How can genetic counseling be helpful?Link checked August 2026
Statement 2 of 3. Counselling after testing is where the result is explained and worked through with you, rather than left with you alone.
Supports this. Evidence-based consensus guidelines for ALS genetic testing and counseling — ALS Genetic Testing and Counseling Guidelines Expert Panel · Clinical guideline · September 2023
The consensus guideline recommends that everyone with ALS who is tested has counselling afterwards, and that it covers an uncertain result in particular, explaining that such a change may or may not be contributing to their condition.
“Posttest counseling provides persons with ALS the opportunity to discuss their result and understand the implications in the context of their specific personal and family circumstances.”
Recommendation 20Link checked August 2026
Statement 3 of 3. Counselling before testing is what makes the decision an informed one and prepares you for the possible results.
Supports this. Evidence-based consensus guidelines for ALS genetic testing and counseling — ALS Genetic Testing and Counseling Guidelines Expert Panel · Clinical guideline · September 2023
The consensus guideline recommends that counselling comes before testing is even offered, so a person can weigh the benefits, risks and limits and anticipate the effect on themselves and their relatives. It also lists harms that can follow from testing without it. This is one of its weaker-graded recommendations, resting on lower-level evidence.
“Genetic counseling should be provided before testing, to empower persons with ALS to weigh the potential benefits, risks and limitations of testing, and anticipate the possible impact of testing on themselves and their family members.”
Recommendation 9Link checked August 2026
Used across the whole answer
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If you are interested in genetic testing, the right path is through proper medical genetic services, with counselling included, rather than going it alone. Here is how to access it.
How to access it:
- Start with your ALS/MND team or neurologist. They can discuss whether testing is relevant for you, and refer you to genetic services and counselling.
- Genetic / clinical genetics services. Many places have specialist genetic services where testing and counselling are provided together by clinical geneticists and genetic counsellors.
- Your MND/ALS association. They can explain what is available where you live and help you find genetic services and support.
Important cautions:
- Avoid relying on direct-to-consumer genetic tests (home kits) for this. They are not designed for diagnosing or properly interpreting ALS/MND genetics, and may be inaccurate or incomplete for this purpose. Crucially, they also come without the counselling that should accompany such significant information. If you have done such a test, take any results to a professional rather than acting on them alone.
- Make sure counselling is part of it. Reputable services include genetic counselling before and after testing; this is the standard to look for.
Practical points:
- Availability, funding, and the process vary by location. Some health systems provide genetic testing and counselling as part of care; elsewhere access may differ. Ask your team or association what applies where you live.
- There may be a wait for genetic services, so if you are interested, it is worth starting the conversation rather than leaving it.
- You stay in control. Being referred does not commit you to testing. Counselling helps you decide, and you can choose not to proceed at any point.
Because genetic services and how they are accessed vary by country, your ALS/MND team and local association are the best guides to the right, reputable route for you. The next question gives you prompts to raise.
Explained: what this word meansEvidence for this answer
The sources the Compass team used to write this answer. Highlighted phrases in the answer above correspond to the statements below.
Statement 1 of 2. Direct-to-consumer genetic tests are not designed for ALS/MND genetics and can be inaccurate or incomplete for that purpose.
Supports this. ALS Genetic Testing and Counseling — Your ALS Guide · Practical guide
Says recreational tests such as AncestryDNA and 23andMe should not be used for ALS genetic testing, that they do not use the right testing, processing or results process for information this complex, and that they could give false reassurance.
“These tests don't use the correct testing, processing, or results return process to manage complex information like genetic ALS/FTD testing.”
Where can I get tested?Link checked August 2026
Statement 2 of 2. Whether genetic testing and counselling are available, how they are paid for and how the process works differ from place to place.
Supports this. ALS Genetic Testing and Counseling — Your ALS Guide · Practical guide
Says access to ALS genetic testing varies greatly within the United States and across the world, that access to genetic counsellors varies widely with where you live, and that what testing costs depends partly on which country you are in.
“Access to genetic testing for ALS varies greatly within the US and across the world.”
Where can I get tested?Link checked August 2026
Adds context. Familial MND and genetic testing — MND Australia · Practical guide · April 2026
Shows what that looks like in one country. Some Australian services give subsidised or free testing, but only for people with a diagnosis or a known family gene change, and the cost otherwise depends on whether the testing is diagnostic or predictive and on public or private services.
“Some genetic services may give subsidised or free testing for MND-related genes.”
Testing costsLink checked August 2026
Used across the whole answer
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Genetic testing is a big topic, so having questions ready for your ALS/MND team, a clinical geneticist, or a genetic counsellor helps. There is no pressure to test. These questions help you decide and understand, whatever you choose.
Deciding whether to test
- Is genetic testing relevant in my situation, and what might it show?
- What are the reasons for and against testing for someone like me?
- Could it affect my treatment options or eligibility for trials?
- Is it okay to take my time, or choose not to test?
Implications
- What would a result mean for me, and for my family?
- What are the implications for relatives, and their right to decide about their own testing?
- Which relatives could be tested themselves, and what would have to be known first?
- Are there any privacy or insurance implications I should understand where I live?
- What happens if the result is uncertain?
Counselling and support
- Will I have genetic counselling before and after testing?
- What support is there for me and my family around the results?
- Can my relatives access counselling if they are considering testing?
Practical
- How do I access proper genetic testing and counselling here, and is there a wait or cost?
- How long do results take, and how will I get them?
Before deciding, talk it through with a genetic counsellor and the people close to you, and only proceed when you feel informed and ready. Choosing not to test, or to wait, is completely valid. The family communication card can help with related conversations, and the clinical trials card covers how genetics can relate to research.
Explained: what this word meansLived experience
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