Rare Diseases and Genetic Screening: Scientific Tests with Human Impact

by Assunta Ginanneschi

The aim of this blog is to arise awareness around  specific rare diseases and create a network of experts, competences and resources around them. Our role is to facilitate the communication between patients, associations and physicians.
During our networking activitiesfoto_settembre.2015_piccola we came across the
dissertation of a young Italian psychologistwho focussed the first part of his thesis work on genetic tests and their impact on patient private and professional life. We asked him to collaborate with us and he accepted welcome on board, Stefano!

Please allow me to underline once again that our policy is to protect the patient identity, unless otherwise specified. All our stories are based on true patients’ cases. Up to now, most of them belonged to my personal network, that’s right, but we accept requests and we’ll be pleased to tell also your stories as well.

Genes and Risks

In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of human genome: it covers ~99% of the euchromatic genome and is accurate to an error rate of ~1 event per 100,000 bases.

This is a milestone! It allows us to know in advance the personal risk for genetic diseases, the timeframe in which they are supposed to appear, and the possibility of avoiding known environmental triggers for genetically prone people; it also opened the doors to the personalized medicine.

This advance is not without controversy, however. Personal bias, religious influences and open mindedness all play a role in attitudes towards this knowledge. For example, the media has not always been willing to provide accurate information to the audience. Many people have followed the conservative attitude of the Vatican towards genetic innovations. On the other hand, society is asked to join the discussion and take part in decisions with its vote, specially in countries governed by the direct democracy system. Direct communication with experts can help to clarify some doubts.

Most rare diseases derive from genetic mutationsAs a first step the patients have to agree to be tested and the test results need to determine whether or not they are affected by a rare disease.

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There are several types of genetic screenings:

Diagnostic testing is used to precisely identify the disease that is making a person ill. The results of a diagnostic test may help you make choices about how to treat or manage your health.

Predictive and pre-symptomatic genetic tests are used to find gene changes that increase a person’s likelihood of developing diseases. The results of these tests provide you with information about your risk of developing a specific disease. Such information may be useful in decisions about your lifestyle and healthcare.

For some genetic mutations, typically all autosomal dominant disorders, the penetrance is complete, meaning that the disease will occur, for sure, like in Noemi’s story.

For other genetic mutations, the affected subject presents just a predisposition, i.e. a higher risk of developing the disease, but there is no certitude that the disorder will occur. In this case, environmental factors and the whole personal genetic context probably play a key role and determine if the disease will appear or not, although their exact role is still a matter of debate among scientists.

Carrier testing is used to find people who “carry” a change in a gene that is linked to disease. Carriers may show no signs of the disease; however, they have the ability to pass on the gene change to their children, who may develop the disease or become carriers themselves. Some diseases require a gene change to be inherited from both parents for the disease to occur. This type of testing usually is offered to people who have a family history of a specific inherited disease or who belong to certain ethnic groups that have a higher risk of specific inherited diseases.

Prenatal testing is offered during pregnancy to help identify certain diseases in fetuses.

Newborn screening is used to test babies one or two days after birth to find out if they have certain diseases known to cause problems with health and development.

Pharmacogenomic testing gives information about how certain medicines are processed by an individual’s body. This type of testing can help your healthcare provider choose the medicines that work best with your genetic makeup.

Research genetic testing is used to learn more about the contributions of genes to health and to disease. Sometimes the results may not be directly helpful to participants, but they may benefit others by helping researchers expand their understanding of the human body, health, and disease.

New knowledge about genetic diseases leads to a different interpretation of health status:  beside the old concepts of healthy and sick now there is now a third state, “genetically at risk”, meaning that the affected person has a certain probability of falling ill in the future.

Ethical medical and legal considerations about genetic data

Although pharmaceutical companies are investing time and considerable resources in rare disorders, there is still a gap between the diagnosis of genetic diseases and prevention/therapy measures. This gap has consequences on the perception of the self and social relationships with the others. Patients diagnosed as genetically at risk fear unscrupulous exploitation of personal genetic data, discrimination on the workplaceor disadvantages in negotiations with insurances and public institutions. Genetic discrimination serves certain economic interests, but hits the equality and parity rights of citizens and of workers stated in many countries’ constitutions.

In addition to the legal aspects, this kind of discrimination starts a negative medical spiral. If a potential patient is afraid of personal data exploitation, he or she won’t run genetic tests. This means he cannot receive timely diagnosis and treatments, if available. If the therapy is not optimized yet, the intimidated patient won’t take place in clinical trials for new drugs and the research for new solutions won’t progress.
Moreover, is it ethically correct to segregate a person currently healthy, based on the genetic makeup?

To test or not to test? And How?


The genetic test prescription and the relative interpretations are a complex issues, so it’s necessary to distinguish between curiosity of the single user and necessity in the case of real genetic risk. Without the opportune medical support the results can be misleading, as happened with the genetic tests direct to the customer (DTC).

In actual fact genetic testing is not a current medical routine yet. Several factors play together to avoid it: fatalism, familiar, emotional and social reasons; this problem requires a multidisciplinary approach provided from the genetic counselors.

Genetic counseling

The definition of genetic counseling reflects scientific and social progress and has varied over time. Genetic counseling  originally meant anything from assistance to eugenics, but has come to mean the process of learning about and discussion options given one’s genetic makeup. It is intended to inform the potential patient about the genetic risk and invite her to give her consent for the genetic test, in her own interest and complete autonomy.

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This means that the genetic consultant has no ruling power about the need to run the test; the decision is taken by the patient alone. Genetic counseling takes into account the ethical and psychological consequences derived from the test results and provides the required support.

Respect for complete privacy is warranted, meaning that the genetic information is kept confidential and any eventual genetic discrimination from insurance or at the workplace will be managed with the relevant advocacy services after the actual law GINA. So far goes the definition.

At this point we can ask some questions:

  • If genetic counseling means communication, is the consultant role really impartial? Or does he instead point to persuade the potential patient and facilitate the decision to consent to the test?
  • Which criteria should be used to evaluate the counseling efficacy? Which aspect is more relevant: the information, the psychological support or the eventual indications for the future planning?
  • When is genetic counseling effective?  
  • What is the best way to create a proper patient-counselor relationship?
  • Are counselors trained properly?

Another key element for convincing a potential patient to go for a genetic test is the family influence and its attitude towards the hereditary disease, the way they speak about the problem and their level of education. Although each decision deserves respect, most rare diseases have to be diagnosed and treated in a timely manner in order to maximize the chances of success or take consequent, conscious decision for the reproductive choices.

On the other hand, the genetic counselor’s role is not easy. He brings good but also bad news and has to be emphatic with the client. In the long term compassion fatigue can occur, that often ended up into an emotional burnout.

So what is the best way to announce the presence of genetic risk? Is it a case specific issue? Shall the risk awareness be a reason for embracing life or living in fear?

I remember the slogan of the well-known film Lorenzo’s Oil: Some people make their own miracle. Genetic tests with all the technical and  human aspects behind are numerous and multidimensional. We look forwards for your inputs, experiences and suggestions.

2 thoughts on “Rare Diseases and Genetic Screening: Scientific Tests with Human Impact

  1. Pingback: Working with Huntington’s Patients, Seizing the Damocles Sword | CheckOrphan

  2. Pingback: Living in Spite of the Damocles’s Sword | CheckOrphan

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