Whole Genome Sequencing
The field of genomic research is an exciting frontier where new discoveries are happening on a daily basis. The human genome was first sequenced in 2001 and the commercial market for genetic testing has since exploded.
Your Genes: One Piece of a Complex System
Today, commercial genetic testing encompasses a full spectrum of choices ranging from recommendations for wine selection and skin care, to discovering your family history and understanding your risk for developing specific diseases. So how does a consumer make an informed choice about genetic testing? And why should you choose to have your DNA sequenced with Health Nucleus?
Whole Genome Sequencing
Whole Genome Sequencing
At Health Nucleus, we take a more holistic look at your health and wellness and believe that the value of your DNA is not restricted to the isolated data produced from sequencing. The true value lies in its integration with additional data derived from our suite of imaging and lab tests combined with our proprietary Artificial Intelligence (AI) and Machine Learning (ML). This integrated data becomes your personalized health intelligence to help inform and guide your health and lifestyle decisions.
Despite the rapid growth in the field of genomics we still have a limited understanding of how genomics can best be used to establish personal health and wellness profiles. In most cases genomics is just one piece of the puzzle and only rarely can genomics alone tell the whole story.
To be an informed consumer of genomic information, we encourage you to review the Q & A below to better understand the context in which the information will be used.
WGS Questions… Answered
We are all made up of millions of cells each with a complete set of instructions for making us, much like a recipe or a blueprint. These instructions are composed of DNA or deoxyribonucleic acid, and the entire set of instructions is known as the human genome. It is packaged into 23 pairs of distinct structures called “chromosomes”. Half of your chromosomes can be traced back to your mother, and the other half to your father. Both men and women share 22 pairs of chromosomes, labeled from 1 to 22. Additionally, women have two X chromosomes, and men have one X and one Y chromosome.
DNA is made of a long string of 4 building blocks, called “nucleotides” or “bases”: adenine (A), cytosine (C), guanine (G), and thymine (T). In order to fit into a cell, DNA forms a characteristic double helix structure in which bases from two DNA strands align: (A) pairs with (T) and (G) pairs with (C). Because of this pairing, DNA sequence length is given in base pairs or “bp”. The human genome has about 3.2 billion base pairs and, if printed out, the genome contained in each cell would stretch 1,864 miles the distance from Washington DC to Guatemala..
The information stored in DNA is used by cells to produce proteins. Proteins are large molecules that produce energy, create tissues, digest food, enable movement, and perform many other critical roles in the body. A string of DNA bases that contains instructions to make one protein is called a “gene”. It is estimated that the human genome contains about 20,000-25,000 genes. You have two copies of most genes; one is inherited from your mother and the other is inherited from your father.
DNA provides a blueprint not only for physical traits (e.g. hair color, eye color), but also has information about what disease you may be susceptible to. In order to understand your genomic composition, genotyping is performed. Genotyping is the process of determining the specific variants, or changes in your DNA as compared to a reference genome. There are multiple variant types classified by the size and nature of the change. A typical individual contains about 4 to 5 million small variants. These variants are what makes each of us unique and can cause or influence disease.
Not all DNA genotyping tests are the same. Many options exist and the best method for you should be selected based on the intended use. The approach used will determine the number of variants and variant types that can be assessed and will have a significant impact on what applications the sequencing can be used for. Here are a few of the most common testing methods:
Genotyping by microarray: Popular low cost genetic tests are used to look at a limited number of variants (typically only Single Nucleotide Variants (SNVs)) and do not cover any genes in their entirety. Genotyping by microarray is a beneficial approach if you know exactly what you are looking for because it targets a small number of predefined variations and is usually focused on a specific application. The microarrays that are used for recreational genomics typically analyze from dozens to a few million SNVs <.02% of your genome.2
Next-Generation Sequencing: Next-gen sequencing techniques have evolved to offer relatively low-cost solutions for interrogating larger regions within the human genome. These techniques can be used to interrogate all variants within specific genes, up to an entire exome (all protein-coding regions) or even a complete genome. As for genotyping, the appropriate next-gen sequencing approach will vary depending on the intended use. Two commonly used next-gen sequencing techniques are exome and whole genome sequencing (WGS) These are used to ensure nothing is missed when someone has a variety of symptoms and no clinical diagnosis. Although exome sequencing offers a much cheaper alternative to WGS, it also can miss a lot. An exome represents about 1.5% of the entire genome.
Exome testing also has limited value for exploiting future genomic discoveries. It provides results for much of what is known today about genetic mutations and deviations. However, genomics and its clinical applications is a rapidly changing field with new important variants being discovered daily. Many of these occur outside of the protein coding regions (exome). When these new discoveries are made, incorporating these findings into a genotyping by microarray test, gene panel, or exome based reporting is time consuming and requires the creation and validation of a new test. It’s an on-going game of catching up to new scientific discoveries. If exome testing is used, one would need to resequence your genome to gain the benefits of new findings outside of protein-coding regions, a costly and time-consuming strategy.
Whole genome sequencing (WGS) is the most complete genotyping method available today. This is the standard used by Health Nucleus. WGS can determine variations in any part of the genome. By using WGS, we are able to instantly apply the latest scientific discoveries when a patient comes into the office. We can also re-interrogate a patient’s genome for future discoveries at any time after a visit without re-genotyping. This saves money and time, and more importantly, ensures access to the latest research. WGS can provide insights into your genetic risks for health conditions, drug response, health and wellness optimization, and provides recreational content such as insights to your traits and ancestry.
Which approach is right for you? If you are looking to answer a very specific question, either diagnostic or recreational in nature, using cheaper technology such as genotyping makes sense. If your goal is to provide valuable insights into your health both today and in the future, WGS is the only technique today that can deliver on this promise.
Health Nucleus uses whole genome sequencing to give you more extensive insights into your health, as well as your risks and opportunities for the future. Health Nucleus WGS research is continually discovering new genetic insights and contributes to a consortium that aggregates genetic advancements on a real-time basis. As genetic research matures, we are discovering that diseases are often caused not by a single DNA variant, or mutation, but millions of variants. Without using whole genome sequencing, the ability to analyze millions of variants simply isn’t possible.
While information about how specific genetic variants cause disease is limited today, genetic research is continually progressing.
Genomic information is a key tool in understanding your health, but it isn’t an absolute diagnostic or a specific roadmap. There is much of the genome that we don’t yet understand. At Health Nucleus, our interpretation and application of WGS testing sets a new industry standard. WGS is just one component of how we assess your health. Our unique imaging protocols, and Artificial Intelligence combined with lab reports complete the understanding of your health and wellness. When analyzed in isolation, WGS insights are limited. When analyzed as part of an extensive package, Health Nucleus provides a complete picture of your current state of health, and identifies future risks.
At your initial Health Nucleus appointment, a blood draw will be conducted for your WGS. The results of which become your Health Nucleus Clinical Genomics Report and your Health Nucleus Insights Report. Approximately 8-10 weeks post testing, your personalized reports will be available.
When you return for your annual follow-up Health Nucleus visit, your reports will be updated to reflect all the new genetic findings applicable to you. With the majority of new discoveries expected to occur in regions outside of the current known realm, the only way to ensure you can consistently receive updates without resequencing is to leverage whole genome sequencing.
Health Nucleus and Human Longevity Inc, are committed to protecting the privacy of its clients and to safeguarding identifiable health information. HLI has adopted a Privacy and Security Compliance Program to assure its compliance with Federal regulations and state law governing patient privacy and health information security. For more detailed information, please read our Data Protection page.
Interested in Learning More?
Here is a list of reputable articles that will increase your learning of genetic research.
Confronting the catalytic dark matter encoded by sequenced genomes
What are single nucleotide polymorphisms (SNPs)
DNA Packaging: Nucleosomes and Chromatin
Generations of Sequencing Technologies: From First to Next Generation