Genetic Risk Assessment
What Is Genetic Risk Assessment?
Genetic Risk Assessment is a clinical process used to evaluate whether your personal and family medical history may suggest an increased likelihood of an inherited health condition. It considers patterns within your health and family history to identify whether genetic factors may be relevant and whether further investigation may be appropriate.
Unlike genetic testing, which analyses DNA to look for specific genetic variants, a Genetic Risk Assessment begins with the wider clinical picture. This may include your previous diagnoses, symptoms, the health of close relatives, the age at which conditions developed and any known genetic conditions or test results within the family.
A Genetic Risk Assessment does not determine that you will develop a particular condition. Instead, it helps establish whether there are features in your personal or family history that may indicate an inherited risk and whether further genetic investigation, screening or clinical follow-up should be considered.
Family history can be particularly important. Certain patterns, such as the same or related conditions occurring in several close relatives, diagnoses at an unusually young age or a known genetic condition within a family, may provide useful clues about possible inherited risk. However, the absence of a known family history does not necessarily exclude a genetic contribution, particularly when family information is incomplete or a condition may have occurred without a recognised diagnosis.
The outcome of a Genetic Risk Assessment may therefore be different for each person. In some cases, the assessment may provide reassurance that genetic testing is not currently indicated. In others, it may support a recommendation for targeted genetic testing or further specialist assessment. Where genetic information is already available, the findings can also be considered alongside the clinical and family history to help determine their relevance.
The purpose of the assessment is to provide a clearer understanding of inherited risk and appropriate next steps, rather than simply to generate genetic data. A specialist may also discuss the potential implications for relatives and whether genetic counselling could be useful as part of the wider process.
Genetic Risk Assessment looks at the whole clinical picture. By considering personal health, family history and relevant genetic information together, it can help determine whether an inherited risk may be present and whether further genetic investigation or follow-up should be considered.
Factors Considered in Genetic Risk Assessment
A Genetic Risk Assessment considers your personal medical history, family history and other relevant clinical information to identify patterns that may suggest an inherited health risk and determine whether further assessment may be appropriate.
| Factor | What May Be Considered | Why It May Be Relevant |
|---|---|---|
| Personal Medical History | Previous diagnoses, symptoms, clinical findings and the age at which relevant health conditions developed. | Certain patterns in your own medical history may suggest that an inherited factor should be considered. |
| Family History | Health conditions affecting close relatives, including diagnoses and ages at diagnosis where known. | Patterns of conditions within a family can provide important clues about possible inherited risk. |
| Pattern of Conditions | Whether the same or related conditions occur in several relatives or across different generations. | Certain patterns may make an inherited contribution more relevant to the assessment. |
| Age of Onset | The age at which relevant conditions developed in you or your relatives. | Some conditions occurring unusually early may warrant closer consideration of inherited factors. |
| Known Genetic Conditions | Any known inherited condition or confirmed genetic diagnosis within the family. | A known familial condition may provide important information when assessing inherited risk. |
| Previous Genetic Results | Previous genetic test results or information about a genetic variant identified in you or a family member. | Existing genetic information may help determine whether further assessment or genetic testing should be considered. |
| Relevant Clinical Factors | Other clinical information relevant to the reason for the assessment and the health concern being investigated. | Considering the wider clinical context helps ensure that inherited risk is not assessed in isolation. |
Genetic Risk Assessment considers the overall clinical picture. Personal health, family history and relevant clinical information can be considered together to determine whether an inherited risk may warrant further investigation or genetic testing.
Who May Benefit From a Genetic Risk Assessment?
A Genetic Risk Assessment may be appropriate for people whose personal or family medical history raises questions about a possible inherited health risk. The assessment can help put these factors into context and determine whether further genetic investigation may be appropriate.
People with a strong family history of a particular condition may benefit from a Genetic Risk Assessment, particularly when the same or related conditions have affected several close relatives, occurred across generations or developed at an unusually young age. The assessment can help identify whether the pattern is suggestive of an inherited risk that may warrant further investigation.
A personal medical history may also provide a reason for assessment. Certain diagnoses, combinations of health conditions or clinical features may raise the possibility of an underlying genetic contribution, even when there is no clearly documented family history. In these situations, reviewing the wider clinical context can help determine whether genetic investigation should be considered.
A Genetic Risk Assessment may also be useful when a known genetic condition or genetic variant has already been identified within a family. Understanding how the family history relates to an individual can help clarify whether they may have an increased inherited risk and whether further assessment or testing may be appropriate.
Some people seek an assessment because they have limited or uncertain information about their family history. Missing information does not necessarily mean that there is no inherited risk. Where appropriate, the available medical and family information can still be reviewed to identify any features that may warrant further consideration.
The assessment is not limited to people who already have symptoms or a diagnosed condition. It may also be considered by individuals who want to understand a potential inherited risk because of their family history or a relevant personal medical history. However, the value of assessment depends on the individual’s circumstances and the specific health concern being considered.
A Genetic Risk Assessment can be useful when personal or family history raises questions about inherited risk. By reviewing the available clinical information and identifying relevant patterns, it can help determine whether further genetic investigation or follow-up may be appropriate.
How Can Family History Affect Genetic Risk?
Family history can provide important clues about possible inherited risk. Patterns of health conditions within close relatives may help determine whether a Genetic Risk Assessment or further genetic investigation should be considered.
The same or related health conditions occur in several close relatives. This pattern may provide a reason to look more closely at whether an inherited factor could be involved.
A relevant condition has affected family members across different generations. This may provide useful information when assessing whether a health pattern could have an inherited component.
A condition has developed at a younger age than would typically be expected. Depending on the condition, an unusually early diagnosis may make inherited factors more relevant to the risk assessment.
A genetic condition or confirmed genetic variant is already known within the family. This information can be particularly relevant when assessing whether other relatives may have an increased inherited risk.
Family history can help identify patterns that may indicate inherited risk. A Genetic Risk Assessment considers these patterns alongside personal medical history and other relevant clinical information to determine whether further investigation may be appropriate.
What Types of Health Risk Can Be Considered?
A Genetic Risk Assessment can consider different types of health risk where personal or family history suggests that inherited factors may be relevant. The type of risk considered depends on the health concern, the pattern within the family and the clinical information available.
One area may be the risk of an inherited genetic condition. Some conditions are caused by changes in a particular gene and can be passed through families. Where a condition is known or suspected within a family, reviewing the medical history and pattern of affected relatives can help determine whether an inherited risk should be investigated further.
A Genetic Risk Assessment can also consider familial patterns of disease. When the same or related conditions occur in several close relatives, particularly across generations or at younger-than-usual ages, the pattern may raise questions about a possible inherited contribution. This does not necessarily mean that a genetic condition is present, but it can provide a reason for further assessment.
Inherited cancer risk may also be considered when there is a relevant family history of cancer. Factors such as the types of cancer occurring within a family, the number of affected relatives and their ages at diagnosis may help determine whether an inherited predisposition should be considered. Where appropriate, further specialist assessment or genetic testing may then be discussed.
In some circumstances, the assessment may consider reproductive or family-planning risks. This can be relevant when an individual or couple has a known genetic condition, a significant family history or previous genetic information that may have implications for future children.
A Genetic Risk Assessment may also consider situations where a person’s own medical history raises the possibility of an inherited cause. Certain combinations of symptoms, diagnoses or clinical findings may warrant consideration of a genetic contribution, even when the family history is limited or unavailable.
These different forms of risk are assessed in context rather than in isolation. A Genetic Risk Assessment does not establish that a person will develop a particular condition. Instead, it helps determine whether the available evidence suggests an increased inherited risk and whether further genetic investigation or clinical follow-up may be appropriate.
Genetic Risk Assessment can consider a range of inherited health risks. The relevance of each risk depends on your personal history, family history and the specific clinical question being investigated.
When Might Genetic Testing Be Recommended After a Risk Assessment?
Genetic testing may be considered after a Genetic Risk Assessment when the personal or family history suggests that identifying a genetic variant could provide clinically relevant information. The decision depends on the specific circumstances and the question being investigated.
| Risk Assessment Finding | What It May Suggest | Possible Next Step |
|---|---|---|
| A Strong Family History | Several close relatives have the same or related condition, particularly across generations or at younger ages. | Targeted genetic testing may be considered if the family history meets relevant clinical criteria. |
| A Known Familial Variant | A specific genetic variant or inherited condition has already been identified in a family member. | Testing for the known familial variant may be considered where clinically appropriate. |
| A Personal History Suggesting an Inherited Cause | Your own diagnosis, symptoms or clinical features may be consistent with a possible inherited condition. | Further genetic investigation may be considered to clarify whether a genetic cause is present. |
| A Relevant Pattern of Cancer | Certain cancers, combinations of cancers or ages at diagnosis within a family may raise questions about inherited cancer susceptibility. | Appropriate cancer genetic testing may be discussed when the clinical and family history supports it. |
| No Clear Indication for Testing | The available personal and family history may not provide sufficient evidence to support genetic testing at that time. | Testing may not be recommended, with the available risk information reviewed as appropriate over time. |
Genetic testing is not automatically required after a Genetic Risk Assessment. Testing may be considered when the assessment identifies a sufficiently relevant clinical or family history, while some people may not need testing based on the information available.
How Is a Genetic Risk Assessment Performed?
A Genetic Risk Assessment begins with a detailed review of the information that may be relevant to your inherited health risk. The assessment is tailored to your circumstances and focuses on the specific health concern, personal medical history and family history that may indicate a possible genetic contribution.
The first stage usually involves discussing your personal medical history. This may include previous diagnoses, symptoms, significant medical conditions and the age at which relevant health problems developed. Any features that could suggest an inherited cause can then be considered within the wider clinical context.
Your family history is also an important part of the assessment. Information about parents, siblings, children and other relatives may be reviewed, including relevant diagnoses, ages at diagnosis and, where known, the circumstances surrounding their health conditions. Patterns across several relatives or generations can provide useful information when considering inherited risk.
Where available, previous genetic information may also be considered. This could include an existing genetic test result, information about a known familial genetic variant or a previous diagnosis of an inherited condition. Reviewing this information alongside your personal and family history can help establish whether further investigation may be appropriate.
The available information is then considered together to identify whether there are features that may be consistent with an increased inherited risk. The assessment does not simply count affected relatives; factors such as the type of condition, relationship between affected relatives, age of onset and pattern within the family may all be relevant.
Depending on the findings, the assessment may indicate that no further genetic investigation is currently necessary, or that additional clinical review or genetic testing should be considered. Where testing may be appropriate, the type of test depends on the specific clinical question and the genetic condition or risk being investigated.
A Genetic Risk Assessment is therefore an individualised process rather than a single test or calculation. Its purpose is to bring together relevant personal, family and genetic information so that the potential inherited risk can be understood and appropriate next steps can be c
What Can a Genetic Risk Assessment Tell You?
A Genetic Risk Assessment can help you understand whether your personal or family medical history contains features that may be associated with an increased inherited health risk. Rather than providing a simple prediction about your future health, it brings together relevant information to identify patterns that may warrant further consideration.
The assessment can help identify whether there is a pattern of health conditions within your family that may be consistent with an inherited risk. For example, the occurrence of the same or related conditions in several close relatives, across generations or at an unusually young age may provide useful information when assessing the possibility of a genetic contribution.
It can also help clarify whether your personal medical history raises questions about an underlying inherited condition. Certain diagnoses, combinations of clinical features or unusual patterns may indicate that genetic factors should be considered, even when there is limited information about other family members.
Where a known genetic condition or variant is already present within a family, the assessment can help place that information in the context of your own circumstances. Depending on the condition and the available evidence, this may indicate that further evaluation of an inherited disorder could be relevant.
A Genetic Risk Assessment can also help determine whether further genetic investigation may be appropriate. In some situations, the available information may provide a reasonable basis for considering additional assessment, while in others there may not be enough evidence to justify further investigation at that stage.
The assessment may therefore provide greater clarity about your current level of concern, the factors contributing to that concern and the possible next steps. It can also help identify information that may be useful to gather, such as more complete family medical history or previous clinical records.
Importantly, a Genetic Risk Assessment does not confirm that you have an inherited condition or guarantee that you will develop one. It is an assessment of the available evidence and clinical context, designed to help determine whether an inherited risk appears sufficiently relevant to warrant further consideration.
A Genetic Risk Assessment can clarify whether your personal and family history suggests a possible inherited risk. It can help identify relevant patterns, put existing genetic information into context and determine whether further investigation may be appropriate.
What Can a Genetic Risk Assessment Not Tell You?
A Genetic Risk Assessment can help identify patterns that may suggest an inherited health risk, but it cannot provide certainty about future health outcomes or establish a genetic diagnosis on its own.
| What It Cannot Tell You | What the Assessment Can Do | Why It Has This Limitation |
|---|---|---|
| Whether You Will Develop a Condition | It can identify personal or family history features that may be associated with increased inherited risk. | Risk is influenced by genetic, environmental and other factors, and an assessment cannot predict an individual's future with certainty. |
| Whether You Carry a Specific Genetic Variant | It can identify circumstances in which further investigation of a possible inherited risk may be appropriate. | A risk assessment considers clinical and family information rather than directly analysing your DNA. |
| The Exact Level of Future Risk | It can help establish whether the available history suggests that inherited risk may be higher than expected. | The available family and medical history may be incomplete, and risk estimates depend on the specific condition and evidence available. |
| That a Condition Is Definitely Inherited | It can identify patterns that make an inherited contribution worth considering. | Similar conditions can occur within families for reasons that are not necessarily caused by a single inherited genetic factor. |
| A Definitive Genetic Diagnosis | It can help determine whether further clinical or genetic investigation may be appropriate. | A Genetic Risk Assessment is an evaluation of available clinical information and is not, by itself, a genetic diagnostic test. |
A Genetic Risk Assessment helps assess possible inherited risk, rather than predict your future health with certainty. Its findings need to be interpreted in the context of your personal history, family history and the specific clinical question being considered.
What Happens After a Genetic Risk Assessment?
After a Genetic Risk Assessment, the findings are reviewed in the context of your personal medical history, family history and the specific health concern being considered. The outcome can vary considerably depending on the information available and the level of inherited risk identified.
In some cases, the assessment may indicate that there is no clear reason for further genetic investigation at that time. This does not mean that an inherited contribution has been completely excluded, particularly where family information is limited or the underlying cause of a condition remains uncertain. Your circumstances can be reviewed again if new medical or family information becomes available.
Where the assessment identifies features that may indicate an increased inherited risk, further clinical investigation may be considered. Depending on the circumstances, this could involve additional review of the family history, obtaining relevant medical records or considering a more specific genetic investigation.
If a known genetic condition or variant is present within the family, the next step may involve clarifying whether the available information is relevant to you. The appropriate approach depends on the condition, the information already available and the specific question that needs to be answered.
The assessment may also identify a need for ongoing monitoring or clinical follow-up. This can be particularly relevant when the family history suggests an increased risk but there is not enough information to establish a specific genetic cause. Any recommended follow-up should be based on the individual circumstances and the health concern being assessed.
For some people, the assessment provides reassurance and a clearer understanding of their family history. For others, it provides a basis for taking further steps to investigate a possible inherited risk. The important point is that the outcome is individualised rather than determined by family history alone.
If new information becomes available later, such as a relative receiving a genetic diagnosis or a previously unknown family medical history being discovered, the risk assessment may also need to be reconsidered. Keeping relevant family and medical information up to date can therefore be useful when inherited risk remains an ongoing concern.
The next step after a Genetic Risk Assessment depends on what the assessment identifies. You may need no further investigation at that stage, or the findings may support additional clinical review, genetic investigation or appropriate follow-up based on your individual circumstances.
Genetic Risk Assessment and Genetic Counselling
Genetic Risk Assessment and genetic counselling can form part of the same wider process, but they have different roles. Risk assessment focuses on evaluating possible inherited risk, while genetic counselling helps you understand the findings, implications and available options.
Assessing Personal and Family History
A Genetic Risk Assessment reviews relevant medical and family history to identify patterns that may suggest an increased inherited risk.
Understanding Genetic Risk
Genetic counselling can help explain what the identified risk may mean in the context of your personal circumstances and family history.
Discussing Your Options
Where further investigation may be appropriate, counselling can provide an opportunity to discuss the potential benefits, limitations and implications of different options.
Considering Family Implications
Genetic information can sometimes have relevance for biological relatives. Counselling can help put potential family implications into context.
Planning the Next Step
Depending on the findings, the next step may involve no further investigation, additional clinical review or consideration of appropriate genetic testing or follow-up.
Understanding the Limitations of Genetic Risk Assessment
A Genetic Risk Assessment can provide useful insight into possible inherited health risks, but its findings need to be interpreted within the limits of the information available. The assessment is based on personal medical history, family history and relevant clinical information, so its accuracy and usefulness can be affected when important information is missing or uncertain.
Family history may not provide a complete picture. Some relatives may have undiagnosed conditions, incomplete medical records or limited information about their own family history. In addition, smaller families, adoption or limited contact with relatives can make it more difficult to identify patterns that might otherwise be relevant to inherited risk.
A family pattern does not necessarily mean that a condition is caused by a single inherited genetic factor. Health conditions can be influenced by a combination of genetic, environmental and lifestyle factors, and relatives often share more than their genes. For this reason, the presence of a condition in several family members does not by itself establish a hereditary cause.
The assessment also cannot determine with certainty whether an individual will develop a particular condition in the future. Even when an inherited susceptibility is suspected, the eventual health outcome may depend on additional genetic and non-genetic factors. Risk should therefore be understood as an indication of likelihood rather than a prediction of an individual’s future health.
Another limitation is that a Genetic Risk Assessment does not directly establish whether a specific genetic variant is present. Where the clinical history suggests that a particular inherited condition or genetic factor may be relevant, further investigation may be considered to answer a more specific question.
The assessment may also change as new information becomes available. A relative may receive a new diagnosis, a previously unknown family history may emerge, or additional clinical information may become available. These changes can sometimes alter how an individual’s inherited risk should be considered.
Understanding these limitations helps ensure that Genetic Risk Assessment is used appropriately. Its purpose is not to provide certainty where certainty is not possible, but to bring together the available evidence and identify whether the circumstances justify further consideration, investigation or follow-up.
Genetic Risk Assessment is a clinical evaluation, not a prediction of your future health. Its findings depend on the quality and completeness of the available information and should be interpreted alongside the wider clinical context.
Frequently asked questions
In this section you can check frequently asked questions.
What is a Genetic Risk Assessment?
A Genetic Risk Assessment evaluates your personal medical history, family history and relevant clinical information to determine whether there may be an increased inherited health risk and whether further investigation may be appropriate.
Who may benefit from a Genetic Risk Assessment?
It may be useful for people with a significant family history of a health condition, a personal medical history that may suggest an inherited cause, a known genetic condition in the family or other clinical features that raise questions about inherited risk.
Does a Genetic Risk Assessment involve a DNA test?
Not necessarily. A Genetic Risk Assessment primarily involves reviewing personal and family medical information. Genetic testing may be considered separately if the assessment indicates that further investigation could be appropriate.
Can a Genetic Risk Assessment tell me if I will develop a condition?
No. It cannot predict an individual’s future health with certainty. It can identify factors and family patterns that may indicate an increased inherited risk, but other genetic, environmental and lifestyle factors can also influence health outcomes.
How does family history affect genetic risk?
Patterns such as the same or related conditions occurring in several close relatives, across generations or at unusually young ages may provide clues about possible inherited risk. The relevance of these patterns depends on the specific condition and wider clinical context.
What if I do not know much about my family history?
An assessment can still consider the information that is available. Limited family history may make it more difficult to identify inherited patterns, but the personal medical history and other relevant clinical information can still be reviewed.
Can a Genetic Risk Assessment identify an inherited disorder?
It can identify features that may suggest an inherited disorder and indicate whether further investigation may be appropriate. However, a risk assessment alone does not establish a definitive genetic diagnosis.
What happens after a Genetic Risk Assessment?
Depending on the findings, no further investigation may be needed at that stage, or additional clinical review, genetic investigation or appropriate follow-up may be considered. The next step depends on the individual’s circumstances.
Can my genetic risk assessment change over time?
Yes. New family diagnoses, additional medical information or changes in the understanding of a genetic condition may provide information that affects how inherited risk is assessed in the future.
Is Genetic Risk Assessment the same as genetic counselling?
No. Genetic Risk Assessment focuses on evaluating possible inherited risk using personal and family information, while genetic counselling focuses on helping individuals understand genetic information, its implications and available options.
Discuss Your Genetic Risk With a Specialist
Understanding inherited health risk starts with looking at the right information in the right context. A specialist Genetic Risk Assessment can help review your personal and family history and determine whether further investigation may be appropriate.
What to Discuss During Your Assessment
Personal Medical History: Relevant diagnoses, symptoms, previous investigations and the age at which health conditions developed can provide important context when assessing possible inherited risk.
Family History: Information about health conditions affecting close relatives, their ages at diagnosis and patterns across generations can help identify features that may warrant further consideration.
Existing Genetic Information: If a genetic condition, variant or previous genetic result is known within your family, this information can be considered alongside your own circumstances to help clarify its potential relevance.
Why London Genetics?
At London Genetics, we take an individualised approach to Genetic Risk Assessment, considering the specific health concern alongside your personal medical history and family history rather than relying on a single factor.
The aim is to help you understand whether the available information suggests a possible inherited risk and whether further clinical investigation, genetic testing or appropriate follow-up may be worth considering.
Our approach is designed to provide a clearer understanding of your circumstances and support informed decisions about the next appropriate step.
If you have concerns about inherited health risk or a significant family medical history, arrange a consultation with London Genetics to discuss whether a Genetic Risk Assessment may be appropriate for you.
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