The ACMG Secondary Findings List, and What We Would Tell You

Message us about a condition that runs in your family, or call 020 3951 3429.

When to get help today

Nothing here is urgent care. If you have chest pain, breathlessness at rest, or you lose consciousness without warning, call 999 or go to your nearest emergency department today.

Sudden unexplained death in a young relative is the one family history that should not wait for a sequencing appointment. Tell us at the first contact and the cardiology assessment is brought forward.

What a secondary finding is

You sequence a genome for one reason and the file contains everything. A secondary finding is something the laboratory looks for deliberately, in genes unrelated to why you came, because knowing about it would change your care.

The list is published by the American College of Medical Genetics and Genomics and it is versioned. Version 3.3 appeared in Genetics in Medicine in 2025 and names 81 genes. Versioning matters more than it sounds. A report that says it screened for secondary findings without naming the version is a report you cannot audit, because the list has grown with every revision.

The criterion for inclusion is actionability rather than certainty. A gene is on the list because there is something a doctor can do about a finding in it, not because a finding in it means the condition is coming.

What is on the list, in plain words

Three groups account for most of the list, and each of them earns its place the same way. There is something a doctor can do about a finding, and doing it earlier changes what happens to the person carrying it.

Inherited heart conditions. The cardiomyopathies, where the heart muscle is abnormally thick or dilated. The arrhythmia syndromes, where the electrical system misfires and can cause sudden death in an otherwise well young person. And the aortopathies, where the aorta is prone to enlarging and tearing. Each of these is managed with surveillance, medication and sometimes surgery, and each is a condition where knowing early changes the outcome.

Inherited cancer syndromes. Hereditary breast and ovarian cancer. Lynch syndrome, which raises the risk of bowel and womb cancer. Familial adenomatous polyposis. Von Hippel-Lindau disease. The multiple endocrine neoplasia syndromes. In every one of them the response is earlier and more frequent screening, and sometimes preventive surgery or medication.

Familial hypercholesterolaemia. An inherited cause of very high cholesterol from birth, which is treatable and frequently missed, and where a finding also identifies relatives who have never been checked.

There is also a small group of other conditions, including susceptibility to malignant hyperthermia, which matters because it is a reaction to certain anaesthetic agents that can be avoided entirely once it is known.

Message us about what the list would cover for you

How often one appears

Around 6% of people carry a finding on this list that changes what a doctor does, on a cohort of 3,972 exomes read against version 3.3, Genetics in Medicine, 2025, of which about 3.0% were cardiovascular and about 2.0% cancer related.

Read that number twice. It means roughly 94 people in 100 are told there is nothing on the list, and that is the ordinary outcome rather than the disappointing one. It also means a finding is uncommon enough that it is worth deciding in advance what you would do with one.

A finding raises risk rather than settling the question. How often carriers actually develop the condition varies by gene, and it is generally lower in people found by screening than in families found through a relative who was already ill. That distinction is the whole of the results appointment.

What we would tell you, and when

The counsellor speaks to you before the sample is taken. That conversation covers what the list holds, what a finding would mean, who else in your family a finding would belong to, and what you would want done.

If a finding appears, the counsellor sees you again and a doctor takes it into the specialist clinic it points at. Cardiology for a cardiomyopathy or an arrhythmia gene. A cancer genetics pathway for a Lynch or a hereditary breast and ovarian result. Lipid management for familial hypercholesterolaemia. The plan is written into the record the clinic already holds, so the follow up is booked rather than suggested.

If nothing appears, we say so plainly and we do not dress it up as a clean bill of health. It means nothing on the list. It does not mean nothing.

What you can choose not to be told

You can decline secondary findings altogether and still have your genome sequenced and stored. That choice is yours, it is made before the sample rather than after the result, and it can be revisited later without a second sample. Consent worth anything is taken before the thing happens, which is what the General Medical Council set out in its decision making and consent guidance in 2020.

You can also decline a subset. Some people want the heart genes and not the cancer genes, or the reverse, usually because of what has already happened in their family. That is a legitimate choice and the counsellor will help you make it rather than talk you out of it.

Carrier status, meaning variants that matter for children rather than for you, is reported on request rather than by default.

What the list does not cover

The 81 genes are a small part of a genome, and everything else in the file is either reported separately or not reported at all. Knowing which is which is how you tell a complete offer from a partial one that is priced like a complete one.

Pharmacogenomics is a separate report against the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group guidelines, and it is inside Genome and Medicines from £9,995.

Polygenic risk for coronary disease is separate again, and the European Society of Cardiology set out in the European Heart Journal in 2025 where such a score is useful, which is in the middle of the risk range where it moves a decision.

Everything outside those three is not screened. A clear secondary findings report says nothing about the common diseases most people get, and a general health check on its own does not lower mortality, across 251,891 people in the 2019 Cochrane review.

What you can do before you come

Take a family history and ask about these patterns, whether or not you ever buy a genome. These are the patterns that make us look harder rather than published thresholds.

Sudden or unexplained death in a young relative, including a drowning or a single vehicle accident, because those are sometimes an arrhythmia. A relative fitted with an implanted defibrillator. Heart failure or a thickened heart muscle diagnosed young. An aortic dissection or an aneurysm repair at any age.

Breast cancer diagnosed young, ovarian cancer at any age, bowel or womb cancer diagnosed young, the same cancer in more than one close relative on the same side, or two different cancers in one person. Any relative already told they carry a cancer gene.

Very high cholesterol running through a family, especially with heart disease in men before 55 or women before 65 on the same side.

If any of that describes your family, say so to any doctor you see. It changes what they do, and it costs nothing.

What we would do

One. A conversation with a registered genetic counsellor, at no charge, in which you decide what you want to know and what you would rather not be told. That decision is made before the sample rather than after the result.

Two. Saliva at home or a blood draw in Marylebone, sequenced at 30x in a laboratory accredited to ISO 15189, and read against version 3.3 of the list.

Three. The result read with a doctor, the plan written into your record, and the file re read every year, including against later versions of the list.

Start with the first conversation

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Questions people ask

What is the ACMG secondary findings list? A published list of genes that a laboratory looks for deliberately during exome or genome sequencing, because a finding would change your care. Version 3.3 appeared in Genetics in Medicine in 2025 and names 81 genes, chosen for actionability rather than for certainty.

How many genes are on ACMG SF v3.3? 81. They cover inherited heart conditions such as the cardiomyopathies, the arrhythmia syndromes and the aortopathies, inherited cancer syndromes including hereditary breast and ovarian cancer and Lynch syndrome, familial hypercholesterolaemia, and a small number of other treatable conditions including susceptibility to malignant hyperthermia. The list has grown at every revision, which is why the version is named.

What are the chances of a finding? Around 6% on a cohort of 3,972 exomes read against version 3.3, Genetics in Medicine, 2025, about 3.0% cardiovascular and about 2.0% cancer related. Roughly 94 people in 100 are told there is nothing on the list, which is the ordinary result.

Can I choose not to be told? Yes, and the choice is made before the sample rather than after the result. You can decline secondary findings entirely, or decline a subset such as the cancer genes, and you can change your mind later without a second sample.

Does a clear result mean I do not carry any genetic risk? No. It means nothing was found in those 81 genes. Most common disease is not caused by a single readable gene, and a clear report is not a reason to leave any screening programme you are eligible for.

Is carrier status included? On request rather than by default. Carrier status concerns variants that matter for children you might have rather than for your own health, and some people want it while others do not.

What happens to my relatives if something is found? A finding in you is information about your parents, your brothers and sisters and your children. The counsellor helps you decide who to tell and how, and we can see relatives here or write to the service already looking after them.

Is the list re read when it changes? Yes. Your stored genome is read again every year, and that includes reading it against later versions of the list without a second sample. Genes are added at each revision and variants are reclassified in both directions, so a file read in 2026 is not the same file read in 2031. You are contacted only when something has changed for you.

Message us about what you would want to know, or call 020 3951 3429.

This page is information and not a diagnosis. Sequencing does not replace examination, history or blood work, and no result guarantees an outcome. If you are unwell today, see a doctor today. In an emergency call 999.

References

American College of Medical Genetics and Genomics. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, ACMG SF v3.3. Genetics in Medicine, 2025.

Krogsbøll LT, et al. General health checks in adults for reducing morbidity and mortality from disease. Cochrane Database of Systematic Reviews, 2019. 10.1002/14651858.CD009009.pub3

European Society of Cardiology. Clinical consensus statement on polygenic risk scores in cardiovascular disease. European Heart Journal, 2025.

Swen JJ, van der Wouden CH, Manson LE, et al. A 12-gene pharmacogenetic panel to prevent adverse drug reactions. The Lancet, 2023;401(10374):347-356. 10.1016/S0140-6736(22)01841-4

Clinical Pharmacogenetics Implementation Consortium. Published gene and drug guidelines, cpicpgx.org, read 8 September 2026.

Dutch Pharmacogenetics Working Group. Pharmacogenetic recommendations, read 8 September 2026.

ISO 15189:2022. Medical laboratories, requirements for quality and competence. International Organization for Standardization.

General Medical Council. Decision making and consent, 2020.

Medicines and Healthcare products Regulatory Agency. Drug Safety Update, October 2020, DPD deficiency and fluoropyrimidines.

The London Genetics Centre. Published whole genome sequencing price, thelondongeneticscentre.com, read 8 September 2026.