Basics
The time of diagnosis is a very emotional life changing time for patients and their families. Whether genetic or not, diagnostic tests are provided by many entities, and can be announced by many different types of professionals with different experiences and backgrounds. Different positions exist on what kind of diagnoses that should be the target of testing and what really are the best practices in the announcement of a diagnosis, the correct information to provide to the patient and their family or the professional that should be responsible in providing this information.
The circumstances under which the announcement is made can have a significant impact on the acceptance of having the disease and the subsequent decisions they make that influence the care of the patient at hand.
Common practices do not exist across Europe – neither about which diagnosis to test for nor about how to provide the patient with the information. In many countries genetic counselling is not even recognised as a profession
Info cards
Rare diseases are usually severe, chronic, often degenerative and life-threatening conditions. Often incurable, they are disabling, difficult to manage, and highly taxing in terms of psychological burden. Their overall picture of consequences is very complex.
Diagnosis of a rare disease is often traumatic and psychologically upsetting as the health care system has often no information and no cure or help for you
It is the probability that someone who carries a genetic mutation associated with a trait for a rare disease will actually have the disease developed. Low penetrance means low risk for the disease to ever develop.
Making predictions of how a disease will be expressed from a particular genotype is difficult. The expression of the disease may be modified by the effects of aging, environmental and other factors.
When the diagnosis confirms a genetic disease, the entire family of the patient is involved
Even when diagnosed with a non-genetic rare disease, the patient’s family must adjust to a new way of life that includes the support of the patient.
Diagnosis of diseases is confirmed with a test or tests used to identify or rule out a specific condition. It is often used to confirm a diagnosis when a condition is suspected based on physical signs and symptoms.
Genetic testing can be performed before birth or at any time during a person’s life, but is not available for all genes or all genetic conditions
The results of a diagnostic test may influence a person’s choices about health care, management of the disorder, family planning even if he/she might never develop the disease..
A genetic disease can be the result of a disrupted single gene – monogenic- (e.g cystic fibrosis) or a result of multiple genes- polygenic( e.g autism, cancer) . Genetic tests are usually for monogenic diseases though this may be changing.
A genetic disease may be caused by abnormalities in genes or in chromosomes (organised structures of DNA with many genes) as for Trisomy 21 disease. Genetic tests can mostly detect single gene diseases
Because most genetic disorders are rare, genetic testing is often done only by specialized laboratories
Many kinds of tests such as HIV test, pregnancy tests or non-health related tests (paternity or genealogy tests) are available as home testing kits. The need for prescription varies in different tests.
In some EU countries commercial genetic testing services are available. In some tests are only supplied via doctors. In others, via pharmacists and still others are offered directly to the consumer (e.g. via internet)
There is not one genetic test for each rare disease. Currently, there are more than 1300 diseases for which genetic tests are clinically available, several hundred tests used in research, and even more in development stage.
80% of rare diseases are genetic. They are inherited (passed from parents) or spontaneous (not inherited from parents though they may affect the genes). They occur at conception or development of the foetus, and are present at birth.
Since genetic testing may open up ethical or psychological problems, genetic testing is often accompanied by genetic counselling
Genetic counselling is a communication process that deals with the existence or risk of for a (possibly) genetic disorder in the family and its consequences
A counsellor helps the individual or family understand:
- the medical facts
- the risk for relatives;
-the options of dealing with it;
- next actions
-the best adjustments to the disorder and the risk of reappearance
It includes explaining/assessing:
- the patient's expectations
- implications of testing vs not testing
- the method
- test accuracy
- the chance that the test will be positive
- additional costs
-a plan for announcing test results.
It includes:
- explanation of the test, disease and consequences
- plan to inform relatives
- implications for individual and family
- follow-up with psychologist and patient organisation
- summary of test results and session including information to announce to the family
Article 12, from the European Convention on Human Rights and Biomedicine requires appropriate genetic counselling prior to genetic testing.
Most member states do not have specific legal provisions on genetic counselling. Exceptions include Austria, France, Germany, Norway, Portugal and Switzerland
The Danish Council of Ethics views genetic information as special since it reveals knowledge not only about someone, but also about their relatives, and because it provides information about both individuals and population groups.
Issue cards
Can patients and their families absorb all the information and the implications in one consultation visit?
Shouldn’t patients and families be directed to a patient organisation dedicated to their disease? If no such organization exists, shouldn’t be at least given information via help lines?
Patients should know: how the diagnosis affects other family members and how to announce it to them.
Siblings of children diagnosed may also be heavily affected but professionals who provide information on the disease may not provide such important information to them...
Many patients that are diagnosed or their families are in denial when they first receive the diagnosis.
There are still patients who receive diagnoses in the hallway of a hospital, or over the phone. Is this acceptable?
By the time a correct diagnosis has been reached, many patients and their families may have spent years searching for an explanation for their symptoms..
Many parents feel extreme guilt at the time of a diagnosis for not realising earlier. Parents often also feel guilt of having passed on their “bad genes”.
The existence of regulations and guidelines does not always reflect a well organised system of genetic counselling in practice.
What is the point of investing in the research, development, and delivery of genetic tests if patients do not understand what is revealed to them?
Should patients choose who announces the diagnosis based on who they feel most comfortable with?
The DNA of a person is seen by many as part of their essence, has impact on family, their future and cannot be changed.
People who reveal genetic test results to their life insurers may be denied insurance or see their policies cancelled.
Whether treatment for a rare disease exists or not, patients have the right to know if they are affected.
Just as some patients will choose to know whether they are affected by a rare disease, some patients may choose not to.
If a patient chooses not to have a genetic test despite symptoms of a genetic disease, will they be discriminated?
Genetic counselling services include pre- and post- genetic counselling, informed consent, test interpretation, and follow-up medical and psychosocial services; all which require financial and human resources...
Shouldn’t diagnosis be given only in the individual's own language?
Genetic counselling cannot be compulsory, no more than any other medical act...
Even if an individual insists on having a test without genetic counselling, the medical facts and possible consequences should be discussed by the clinician ordering the test.
Even when it comes to testing children, or people who are not able to give informed consent, they still need to be involved in genetic counselling and in the decision-making process, according to their capacities.
If the results of genetic tests are directly accessible without counselling, the can provide wrong predictive health information thus causing delays in seeking treatment or seeking unnecessary medical treatment
A written summary of the test result and of the issues discussed during the counselling should be given to the patient.
A genetic test is not a definite indicator of a disease. Some diseases are the result of many mutations on several genes thus difficult to identify by one test
Story cards
Policies
Patients should be able to send samples for testing to a lab for any diagnosis and they can receive the results of any diagnostic test in any form they wish. No regulations needed.
National regulation defines what kind of tests may be performed and for which diagnosis and the patient may choose how and when to get the tests done and who should announce the diagnosis.
National regulation defines what kind of tests may be performed and for which diagnosis. Patients should receive the results of the tests from a skilled healthcare professional
European regulation defines what kind of tests may be performed and for which diagnosis. Genetic counsellors, certified according to uniform European guidelines, are the only ones who should give the results to the patients
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