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Decide is an information aid to assist parents in increasing their knowledge of Whole Genome Sequencing, explaining Incidental Findings and the potential Implications that may arise.

Basic Genetics

What is a genome?

Deoxyribonucleic acid (DNA) is a molecule that encodes the genetic instructions used in the development and functioning of most known living organisms. The complete set of instructions is called a genome, and is passed from parent to offspring during reproduction.


The building blocks of DNA are called nucleotides, There are four different types, called bases, Adenine, Thymine, Guanine and Cytosine (A,T,G, and C). These are combined in a specific order (the DNA sequence) to form genes.

This sequence of DNA forms the instruction manual on how and when to build proteins. Proteins control all aspects of the body’s functioning.


A genetic disorder is caused by a change in an individual's DNA. Such changes can range from a single letter change (such as the substitution of an A for a G), to small deletions or replications of parts of a gene, to the addition or subtraction of an entire chromosome or set of chromosomes.



All of our genes come in pairs, one copy comes from the father, and one from the mother. When DNA is copied in the formation of eggs and sperm, there are frequent changes that are introduced. Most of these changes, also called variations, cause no problems. Others can predispose us to diseases. Some of these changes may be problematic if they are present in both the egg and sperm, and some are so serious that they can cause problems if they are present in just one of the two pairs of genes. Whole genome sequencing can detect all of these different types of variation.

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Genome Sequencing

Genome Sequencing

Each cell in the human body has at its centre a DNA sequence that contains over 6 billion bases (A,T,G, and C) Genome Sequencing examines all 6 billion DNA letters at once.

What is Genome Sequencing?

As you may already know, humans have in most cells of their body all the DNA needed to tell our cells how to function. The DNA can be extracted from almost any biological sample such as saliva, hair or blood. Once the DNA is extracted and sequenced, the complex work of looking for variation that may cause disease begins. This is the work of a scientist called a bioinformatician. He or she must look at all 6 billion bases and check their order and location, looking for changes, subtractions and additions to the sequence. The bioinformatician’s job is to narrow down this number to find the one change that is causing the genetic problem being tested for.


Whole Genome Sequencing
Researchers can look closely at large amounts of genetic information by sequencing, or “reading,” every letter in your DNA (your genome). Sequencing of a person’s entire genetic code is called Whole Genome Sequencing.
Exome (1%)
Genome (99%)


Whole Exome Sequencing
Surprisingly, most of your genome does not contain genes. There are many sections of DNA that do not contain any genes. Often, researchers will sequence only the parts of the genome that contain genes. These parts are called the “exome.” The exome makes up about 1 percent of the genome, and gives the instructions to make all the proteins in your body. Sometimes the fastest way to look for changes that may cause disease is to look only at the exome. This is called Whole Exome Sequencing.
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Incidental Findings

Incidental Findings

DNA sequencing produces information well beyond the specific variant that causes the particular disorder on which an analysis is focused. In the course of this analysis, it is likely the that we will run across many other mutations.

Some of these may indicate serious health risks. They may find indicators for the development of Alzheimer's disease or a high risk genetic predisposition for a some type of cancer. These are known as Incidental Findings.

What type of answers can I find?

When patients go through the process of Whole Genome Sequencing, they may have various options regarding receipt of results. They can have full disclosure of all the results, disclosure of treatable results, or non-disclosure of any additional findings. The choices they make can have serious implications for their lives. Patients and their families need to consider many ethical, legal, and social issues associated with getting these results.

Complete Disclosure

Full list of potential tratable and non treatable diseases

Specific Disclosure

Specific finding on potential diseases

Intellectual Disabilities

Findings related to intellectual disabilities

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  • Social

    Inherited disorders may have implications beyond the patient to many family members. This can be devastating news to patients and their families. Alternatively, these results may help families take a proactive approach to monitoring potential issues.
  • Psychological

    Incidental Findings may have the ability to give patients a fighting chance when it comes to early detection and treatment. Finding mutations or abnormalities through Genome Sequencing may give patients valuable medical information to deal with health issues within their family.
  • Economical

    Fully disclosed Incidental Findings become part of your medical records. This may have serious implications concerning health and life insurance. If you choose not to have your results disclosed, they will not be included in your medical records. However, you will not know of any abnormalities that may cause future health problems.

Need more information?

Decide has created a platform to test your knowledge on Genome Sequencing in order to make an informed decision.