Genetic analysis

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We use whole genome sequencing as the basis for a detailed genetic analysis. We provide a clear and relevant report, supporting clinicians to develop effective health and wellness plans for each of their patients. Our company works with experts in the field of genomics, including through the Cambridge Enterprise, the University of Cambridge’s Commercialisation Office.

Genome Analysis Report

Analysis topics

Our team is here to guide you through the report, and available as an ongoing resource, should you need it.
Our comprehensive analysis covers the following topics:

Polygenic risk
scoring

Many common disorders have complex causes. Genetics can be a significant risk factor for such diseases, but often no single genetic variation has a direct effect on the development of the condition.


Screening the whole genome gives us far more data on which to base a more thorough analysis of disease risk. For example, for Type 2 diabetes, we analyse the combined effect of 6.9million relevant genetic positions, whereas other genetic testing providers typically consider only a handful of markers. We have more than 20 polygenic risk scores based on the latest academic research, other examples including Coronary artery disease, for which we consider 6.6million relevant genetic positions, and atrial fibrillation, 6.7million relevant genetic positions.

Pathogenicity
screening

Some specific genetic variants can be potentially disease causing and can be identified though a pathogenicity screening.


Here, we are look at over 3,800 whole genes including millions of potential variants, to identify specific variations within those genes that have been identified with increased likelihood of developing a condition.


We use a database of genes and the variants within them that has been curated by Johns Hopkins university. This database is comprehensive, authoritative compendium of human genes and phenotypes that is updated regularly and allows us to look for specific genetic variants that have been specifically documented to be potentially disease causing.

Key genes and
genetic positions

Some specific genes and genetic positions have been well documented to have particularly impactful variants. We look in detail at a number of key genes and markers that have been specifically highlighted in academic research and by industry bodies as being particularly relevant. For this analysis, since we are selecting a small number of potentially highly impactful loci to analyse, we report negative findings as well as any positives, contributing to added peace of mind.


Conditions with which these genes and genetic positions have been associated with include cardiovascular diseases, heart rhythm problems cholesterol and more than 8 types of cancer (breast, ovarian, uterine, colorectal, melanoma, pancreatic, stomach and prostate).

Drug gene
interaction

We can help shed light on how each person will metabolise different drugs. This allows clinicians to prescribe with greater accuracy, reduce trial and error when administering drugs and fine tune the dosage.


Our report findings can also help avoid drug toxicity and help individuals become aware of drug intolerances they may have. Common drug types in the analysis include anti-coagulants, antidepressants, pain medication and some cancer treatments.

Fitness and
nutrition

By revealing the genetics that contribute to athletic performance and affect how we absorb and metabolise food, drink, vitamins and minerals, our analysis can help individuals live a healthier life in a way that’s tailored to their needs.


We have specific panels within this section that are of relevance, for example we have a dedicated panel on weight loss and diet.

General interest

We can analyse the genes that determine people’s physical appearance, and characteristics like sense of taste and smell, allowing them to learn more about themselves.


While this topic is not as potentially clinically relevant as other sections of our analysis, genetics does provide a unique opportunity to understand ourselves in a new way; this topic has been designed with that in mind.

Mythbuster

Reality: Genetics is a key tool for clinicians to include in a work-up of a person’s health, just like a blood test or a scan.

Reality: We will not sell your data. Sadly, this is something that other DNA testing companies often do ask you to agree to, usually buried in the small print, so if you choose to use another provider please read through their terms and conditions very carefully to be sure. Some insurance companies do ask you to declare whether you’ve had a genetic test for certain conditions. This is becoming the subject of regulation and is an evolving field.

Reality: We require only a simple saliva sample.

Reality: The whole genome contains around 10 million pages of information. A cheaper genetic test may cover the equivalent of only a couple of hundred pages. We’ll let you be the judge of which approach is more likely to help you manage your health.

Reality: Research in genetics is continually evolving, so while the genome won’t change, we can ask more questions about it all the time. Consequently, we can re-look at your genome sequence in light of new research.

Reality: It’s up to the individual and the clinician to decide together what is reported. The clinician should be there to make sure that the individual understands the process at every step, and to provide support in case of any adverse results.

Reality: Genetics is usually not diagnostic. Rather, like most tests ordered by a clinician, genetic analysis provides more information about a person that should be used as part of a full work-up to help better manage healthcare and promote wellness.

Reality: You can certainly find out that kind of information, and it can be fun. But there’s also a more serious side, in helping to prevent serious illness.