Integrating Genomic Data Into Clinical Workflow 1

Genomic counseling

What is genomic counseling?

Genomic counseling is an informative process whereby a person learns about their genome.

In contrast to genetic counseling, which focuses on Mendelian diseases, genomic counseling is not limited to the current clinically relevant information.  Genomic information that may be of interest to a person typically includes whether there could be an increased risk for complex diseases such as diabetes or obesity and if there is a likelihood of genetically determined traits ranging from baldness to the susceptibility of developing side effects from medication.

Additionally, where genetic counseling focuses on inherited diseases or syndromes, genomic counseling can also focus on prevention.  For example, your genomic profile indicates that you have an increased chance of developing gout, but you have never experienced an attack yet.  Your genomic counselor can advise you on how to minimise the risk of developing the particular ailment for which you are genetically programmed.

In another example, you suffer from rheumatism and are prescribed a certain drug.  Your genomic profile indicates that you have difficulty converting folic acid to its essential active breakdown products.  Via genomic counseling, the right drug, the right dosage and the right food supplement can be advised to either you or your treating doctor to assure optimal treatment, thereby reducing any possible side effects.  See also our service:  Personalised medicine

 

What are the disadvantages and pitfalls of genomic counseling?

Any of the risks associated with genetic testing often involve the emotional, social, or financial consequences of the test results.  People may feel angry, depressed, anxious or guilty about their results.  In some cases, genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested.  The possibility of genetic discrimination in employment or insurance is also a concern.  The test often cannot determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time (this is called penetrance).  Another major limitation is the lack of treatment strategies for many genetic disorders once they are diagnosed.

The huge amount of information a genetic test provides, is not useful unless you have a particular question or would like to know something specifically.  If not, it could be likened to having a book containing a million answers, but without knowing the question in the first place, the book itself could prove to be of little use.

 

What exactly is analysed?

Your genetic material consists of 23 pairs of chromosomes.  The chromosomes are made up of DNA, which in turn is made from so-called base pairs.  The sequence of these base pairs determines the genetic information.  If a base (pair) is different it is called a SNP (single nucleotide polymorphism, pronounced “Snip”).  A differing SNP may lead to different traits, disease, etc.  The DNA kit 23 and me measures around 600,000 SNPs that are known to have influence on our health.  This means, however, that not your full genome is sequenced (It would be much more expensive, because it exceeds the number of 3 billion base pairs and at this moment,  we expect to be able to offer this from fall 2017 to a limited group of interested patients for about USD 700)

(For an introduction into genes,  please click here)

 

How does IHCH genomic counseling work

1. Have your genome analysed by ordering a kit via the 23andme website.  Make sure you choose the kit on the right (ancestry+health).  Click “add kit” and fill out your details.

If your data has already been analysed, skip to step 3

2. Follow the instructions on screen.  You will be sent a sample kit for collection of saliva.  Send this back and 6-8 weeks later, your data will be available for you online (visible only to you).

3. Once you have received notification from the website www.23andme.com that your data is ready, please notify Dr Boerebach via email at:  ihchinfo@ezorg.nl.

 

We will ask you to grant us access to your profile so that we can analyse it and then invite you to a consultation.  It will take us 45 minutes beforehand to prepare for the consultation.  The consultation itself will be one hour.  Follow-up consultations may be needed depending on the results. 

At the consultation, we will discuss the most important risk factors to your health that may be found, such as your chance of developing cardiovascular disease, diabetes and some of the most “common” cancers.  If required, we can then examine the results more closely to address any other questions that you may have regarding your health.

 You will receive your analysed report on a USB stick for your own reference and/or health research.

 The total cost for the analysis, consultation and report, excluding the cost of the kit, is €300.

Staff

Philip
(Deutsch, English, Francais, Nederlands )
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