Muscular endurance allows you to carry out an activity or effort for the longest time possible, using oxygen for energy production. It represents the body’s ability to repeat an activity for a period of time without getting tired. Skeletal muscle fibres are classified as rapid, slow or intermediate, depending on the contraction time.  Each type of fibre is unique in its ability to contract in a certain way and influence how the muscles respond to physical activity. Muscular fibre characteristics are genetically determined. Different tests have identified genetic variations associated to size, strength and oxygen supply to muscle tissue. People with specific genetic types are better in resistance activities than others. A clear example of these types of association is the case of “marathon genes” (ACTN3) observed in elite athletes. An overall report on your genetic profile associated with types of muscle fibres enables a better understanding of how to maximize your response to training.

Strength is defined as the ability to generate intramuscular tension when faced with a resistance, regardless of whether movement is generated. Period and systematic resistance training enables diverse adaptations such as hypertrophy, an increase in energy consumption and muscle mass and body fat proportion control. Similarly, it promotes the increase in bone mineral content, making it stronger and more resistant. It increases strength in the non-contractile structures, like tendons and ligaments. It helps to prevent bad postural habits. It enables significant neuromuscular adaptations. It improves sports performance and is an essential component of any rehabilitation programme. Strength is determined by the biological structure of the muscle that, in turn, is determined by genetic factors. Genotypes have been described that are associated with a greater benefit when it comes to increased strength following training.

VO2 max is the maximum amount of oxygen that our body can transport within a specific time interval. This is usually expressed in litres per minute (L/min). In a certain way, VO2 max allows us to know our aerobic capacity for any physical activity. The more intense the activity the more oxygen we need to transport and consume. From what we are aware, our VO2 max helps us to know our sport limits. We know that people with certain genotypes have better aerobic capacities than others. Our test analyses genetic variations associated with the personal likelihood of having a higher or lower VO2 max, their muscle oxygen supply and their tolerance to fatigue. Studies exist that connect certain genetic variations with a better resistance to muscular fatigue.

Cardiovascular diseases constitute the main cause of death and long-term disability. Cardiac function has a direct impact on exercise and vice versa. Scientific studies show that regular exercise increases cardiac capacity and strengthens the heart. For athletes, genetics provide scientific knowledge that can help with the optimisation of performance, enhance the effects of physical exercise and assess the risk of a hereditary disease associated with sudden death.

Sport is good for your health but injuring yourself is always a risk when undertaking any kind of exercise, even more so when the physical exercise is undertaken incorrectly. Nevertheless, there are people who have a greater disposition to injury than others and, in part, it is due to their genetics. Certain people from specific genotypes may have stronger ligaments than others. Scientific evidence has associated certain genetic variations with a greater disposition to risk of injuries to joints and other areas. Once we know these genetic factors that may predispose to injury, the first step is to adjust the training plan and help to prevent them. We will know, for example, which exercises to do and which to avoid.

The most predictive factor of developing fractures is the determination of bone mineral density (BMD). Nevertheless, other risk factors such as age, sex and a personal or family history of fractures can be very significant when predicting risk. We analyse polymorphisms related with BMD and bone fractures to identify possible cases of a likelihood of low mineral density. Different tests establish the influence of specific genetic variations as a predictive factor for the emergence of fractures. Some variations increase risk, whilst others have a protective role.

The exercise process can cause inflammation and tissue damage. Muscular injuries are one of the main causes for a reduction or break in sporting activity. There are various factors associated with the variability of muscle damage: sex, age, hydration, body mass and genetic components. There is a relation between polymorphisms in the genes IGF-2, CCL2, ACTN3, IL-6, TNFα and the severity and response to muscular damage produced by eccentric exercise, associated with recovery times or periods of muscular rest. There are genetic variations that improve inflammatory response, which enable repair of muscular damage following exercise.

Different tests have associated genetic variations with a greater adherence and perseverance to physical exercise with a healthy lifestyle. Certain genotypes could explain why some individuals undertake physical activity, whereas others lack motivation to maintain it.

Exercise-associated muscle cramps (EAMC) are very common and can be caused by multiple factors: dehydration, nutritional deficiencies, ischaemia, inadequate training and excessive exercise. They are defined as the painful, spasmodic and involuntary contraction of skeletal muscle.

Physical activity is beneficial for health and is particularly recommended for people with a greater risk of obesity, as exercise helps to improve metabolism. The combination of regular physical exercise with low calorie diets is the best way to reduce weight. Lipolysis and thermogenesis regulation mechanisms are involuntary in maintaining body weight and certain genotypes are associated with a greater body mass index (BMI) and resistance to weight loss, due to a slower energy metabolism and less mobilisation of fatty acids. Knowing the genetics of markers related to lipolysis and thermogenesis mechanisms can tell us the relationship between weight/body fat and response to sport. The results can help you to choose customised diet and exercise in order to lose and maintain weight. Also, in this category, the FTO gene marker is included, which is associated with a greater tendency of obesity, body mass index increase and waist circumference.

Insulin is the hormone secreted by the pancreas to control glucose levels in the body. Insulin sensitivity refers to the body’s ability to respond to changes in glucose levels. In general, having a greater insulin sensitivity is good and means that the body has a greater ability to process glucose. On the other hand, insulin resistance (high insulin) is a change which impedes the correction regulation of insulin, increases the storage of fat and is a risk factor for obesity and type 2 diabetes. Exercising reduces glucose levels. It has been seen that some genotypes are associated with an increased insulin sensitivity in response to exercise. Knowing your genetic profile associated with insulin sensitivity allows you to better manage and plan aerobic and anaerobic exercise and to adapt your usual diet, paying special attention to carbohydrates.

ACE, ACVR1B, ADAMTS14, ADRB2 , ADRB3 , AGT, AMPD1, APOA1, AQP1, ARHGEF25(GEFT) , BDKRB2, BDNF , CASP8, CCL2, CCR2 , CHRM2, CILP, CKM, COL12A1 , COL1A1, COL5A1, COL6A1, CREB1, CREM, DMD, ELN, EPAS1 (HIF2A), FABP2, FBN2, GABPB1 (NRF2), GALNT13, GDF5 , GNB3, HFE , HIF1A , IGF1, IGF1R, IGF-2, IL15RA, IL1B, INSIG2 , KCNJ11, KIF5B, LIF, MCT1, MMP3 , MSTN , MTHFR, MTR, NFIA-AS2 , NOS3, NRF1, PPARA, PPARD, PPARD , PPARG , PPARGC1A, PPP3CA, PPP3CB, PPP3R1, RBFOX1, SLC2A4, TIMP2 , TNC, TNF , TRHR, TRHR, TTN, UCP2, UCP3, VDR , VEGFA

In the myDNAmap Neurology panel we analyse more than 450 genes associated with monogenetic hereditary neurological diseases. This allows you to be able to act effectively in the prevention, prognosis and treatment of both the most frequent diseases. as well as diseases considered to be more rare or low frequency.

Genetic factors play a pivotal role in the development of many diseases, including neurological ones. Knowing our genetic information early allows us to make decisions regarding our health. We are thus able to actively contribute to the prevention, delay in the onset of a disease or alleviate its symptoms.
Neurology is one of the specialisms that is greatly benefiting from the progression of genetics and sequencing technologies, like whole genome sequencing. Genome testing can be used to find out the predisposition to serious neurological symptoms. It is important to know that having a genetic predisposition to a disease does not necessarily mean that this disease will develop. Environmental factors influence its manifestation and it is possible to take control of them preventively.

The genetics of neurological diseases is complex as, on occasions, the variants in a gene are determined for the development of the disease, but in other cases, those same genetic variants may be modulated by environmental factors like diet or drug consumption. For this reason, some individuals with different lifestyle habits and the same associated gene can develop the disease, whilst others may not. For this reason, at myDNAmap app we gather all information associated with lifestyle habits by means of a questionnaire created by our health professionals. It includes all relevant information for a sound good risk assessment.

Parkinson’s is a neurodegenerative disorder that affects the neurons, which are responsible for controlling movement. These affected neurons do not produce a sufficient quantity of dopamine, the substance that is responsible for controlling a person’s voluntary movements. This causes symptoms like trembling, balance and coordination problems, limb stiffness and slowness of movement. In this genetic test we analyse genes known to be most frequently associated with Parkinson’s disease.

Dementia causes a progressive neurodegenerative process. Some of these types of dementia are frontotemporal or vascular. Among them is Alzheimer’s disease, which is the most common and represents 60 to 70% of cases.
Alzheimer’s disease is a neurodegenerative disorder that causes cognitive deterioration, behavioural problems and affects the ability to undertake daily activities. Between 1 and 5% of cases are early onset Alzheimer’s disease (<60-65 years old). The majority of these patients are sporadic cases and approximately 2% are inherited in an autosomal dominant manner, where risk variants in genes PSEN1, PSEN2 and APP are described as the most frequent causes. Signs and symptoms of this (hereditary) type follow an aggressive course and generally appear between the ages of 30 and 40. On the other hand, approximately 95% of cases are delayed onset Alzheimer’s (>60-65 years old). And although variants have been identified in ~20 genes associated with delayed onset Alzheimer’s, the apolipoprotein E (APOE) genotype has been deemed as a significant predictive factor. This is because a specific genetic profile presents an increased risk of developing the illness. It is important to highlight that a positive result for risk variants in associated genes does not necessarily mean that you will develop the disease, as there are other factors that can operate alongside this such as environmental and lifestyle factors.
This genetic analysis allows us to detect the genetic predisposition of developing the disease, to take measures to delay the symptoms and improve quality of life, as well as detect family history and alert other family members.

Amyotrophic lateral sclerosis or ALS is a rare neurodegenerative disease that affects neurons in the brain, the brainstem and the spinal cord, which control the voluntary muscle movement. In 10% of cases, the cause is genetic.

Principales genes de Enfermedad de Parkinson, Alzheimer y Enfermedad Lateral Amiotrófica:
APOE, ALS2, APP, ATP, ATP13A2, ATP7B, CHCHD10, DCTN1, DNAJC6, FBXO7, FUS, GCH1, GRN, KIF5A, LRRK2, MAPT, OPTN, PARK7, PFN1, PINK1, PRKN, PRKRA, PRNP, PSEN1, PSEN2, SETX, SLC6A3, SNCA, SOD1, SPG11,  SPR, TARDBP, TBK1, TFG, TH, UBQLN2, VAPB, VCP, VPS35.

In total, more than 450 genes are analyzed.

Cardiovascular diseases are the main cause of death worldwide and have complex aetiology, as so many environmental and genetic factors are involved. Thanks to the implementation of commercial mass sequencing platforms, cardiology is a specialism that is benefiting from genomic applications by means of a single test.

For this reason, at myDNAmap we include all data regarding your lifestyle habits in our app, by means of a questionnaire created by our health professionals. It includes all relevant information for a sound risk assessment. Knowing the information our DNA contains regarding our predisposition to developing a cardiovascular disease, allows us to make a series of decisions regarding our lifestyle habits. It also allows us to adapt pharmacological treatments, which will allow us to prevent and even stop these diseases occurring. Furthermore, it allows us to do a follow-up study in our children.

The myDNAmap Cardiology panel includes the analysis of more than 300 genes associated with hereditary cardiovascular diseases, both rare (for example pulmonary hypertension, Fabry Disease and amyloidosis) and common (like myocardiopathy, arrhythmia and aortic diseases for example). In addition to genes associated with a greater cardiovascular risk like those associated with diabetes and hypercholesteremia. Thus, taking a complete overview of all factors that play a role in the development of this type of diseases.

Having a pathogenic germinal mutation is only a predictor of cancer and does not necessarily mean that the individual will develop it. Nevertheless, families and individuals with a hereditary likelihood of cancer can benefit from early detection programmes. That is why it is important to identity them early.
During the tumour process there is an uncontrollable cellular cycle. That is why many genes associated with cancer play a significant role in DNA cell-proliferation and repair processes. At myDNAmap we study more than 150 genes associated with hereditary cancers.

Cancer is a disease present in all medical specialisms and is the second cause of death worldwide. In men, the most prevalent cancers are prostate, lung, bronchial, colon, rectal and bladder cancers. In females, the prevalence of cancer is higher in the breasts, lungs, colon, rectum, uterus, ovaries and thyroid glands. In children, prevalence is with cancers that affect the blood and those associated with the brain and lymph nodes.
Cancer aetiology is complex and can be caused by various hereditary and acquired genetics. Acquired genetic variants can develop “spontaneously” as a response to carcinogenic environmental factors (tobacco smoke, radiation, viruses and bacteria etc.), or as a result of errors in DNA replication. These genetic changes occur after conception and are called somatic.
Hereditary cancers represent approximately 5% of all cancers. They are transmitted from generation to generation and are caused by genetic variants in the germline (ovule and sperm). These variants occur in susceptibility genes, are present in all cells of the body and, in the majority of cases, present in an autosomal dominant manner.
Normally, hereditary cancer manifests at an earlier age than normal.

The following hereditary cancers are included in the myDNAmap Cancer Panel:

Hereditary breast and ovarian cancers

It is estimated that 1 in 8 women may develop breast cancer throughout their life. The majority of breast cancer (male and female) and ovarian cancer cases are sporadic. However, it is calculated that 5-10% are due to a hereditary genetic predisposition, where dominant autosomal pathogenic variants in BRCA1 and BRCA2 are responsible for the majority of cases. In men, variants in BRCA1 and BRCA2, although less frequently, are responsible for cases of prostate cancer, pancreatic cancer and melanoma, among others.
Approximately 50% of women with breast cancer have no history of the disease and therefore are unaware that they are carriers of the pathogenic variants in BRCA1 and BRCA2. For this reason, international experts have already started to recommend the preventative analysis of these genes in women over 30 years old. There are other genes associated with breast, ovarian and endometrial cancer included in this panel, which are associated with cell cycle control and DNA repair.

Gastrointestinal cancer

Gastrointestinal cancer is a complex disease, resulting from a combination of environmental and lifestyle habits with specific genetic variants. The majority of gastrointestinal cancers are sporadic cancers and approximately 5 to 10% of them have a hereditary component as a consequence of germinal mutation. Lynch syndrome or hereditary non-polyposis colorectal cancer most frequently predisposes adenomas and colorectal cancers and is associated with dominant variants in MLH1, MSH2, MSH6, PMS2 and EPCAM. The probability that a person who is a carrier of a pathogenic variant in any of those genes will develop Lynch syndrome is very high, leading to 80-90% of cases. There are also genes associated with gastrointestinal cancer. All of these are associated with cellular control and DNA proliferation and are included in this panel.

Li-Fraumeni syndrome

Li-Fraumeni syndrome is a rare autosomal dominant disease caused by variants in the TP53 gene, a key regulator in the cell cycle. 85% of patients with pathogenic variants in this gene develop the illness. This syndrome is characterised by the occurrence of multiple tumours at an early age. Due to its broad tumour spectrum, there are no early detection programmes available. For this reason, only sequencing this gene enables us to take preventative measures.

Prostate cancer

Prostate cancer is one of the most common types of cancer in men (1 in 7). In many cases, it is a silent disease that may not show any symptoms in its initial stages. If it is detected when it is still limited to the prostate gland, a successful treatment is more likely, as it has still not affected other tissues. The genes most commonly associated with these cases and other types of cancer in men are BRCA1, BRCA2 and HOXB13.

Familial adenomatous polyposis

Familial adenomatous polyposis is a type of early onset colorectal cancer and is associated with the emergence of multiple adenomatous polyps in the rectum and colon. It is estimated that 1 in every 8,300 newborns suffer from this condition. It represents less than 1% of colorectal cancer cases. The majority of familial adenomatous polyposis is caused by known susceptibility genes and presents dominant and recessive patterns of Mendelian inheritance. The classic form of familial adenomatous polyposis is dominantly inherited and is associated to pathogenic genetic variants in the APC gene and accounts for approximately 0.5% of all colorectal cancers. A frequency rate of 20% is calculated for de novo mutations, which would mean the absence of family history in these cases. Variants in the MUTYH gene are associated with an autosomal recessive form and are responsible for 0.5% of all colorectal cancers.

Hereditary lung cancer

Lung cancer is the most common cancer worldwide. The majority of cases are caused by somatic variants associated with environmental factors like smoking. Only 8% are associated with germinal mutations, which in turn are difficult to identify, given that this type of cancer is significantly influenced by the environment. Despite its rarity, various genes have been associated with a predisposition to lung cancer, among others BRCA2, CDKN2A, TP53 and EGFR.

Melanoma

Melanoma is a type of skin cancer which affects cells called melanocytes; these produce brown pigment or melanin which colours our skin. Skin cancer can have an unfavourable prognosis if it is not detected and treated at an early age. Only 10% of cases present a familial aggregation. Various genes have been associated with this type of cancer, the most common being CDKN2A. People who present a pathogenic variant of this gene have a greater disposition to developing various melanomas, where other organs are also affected like the pancreas.

Tumours of the central nervous system

Tumours affect the nervous cells of the brain and spinal cord.

Neuroblastoma

This is a childhood cancer that is most commonly diagnosed during a child’s first year of life and represents between 10 and 15% of all cancer deaths in children. It occurs when neuroblasts or embryonic cells start to multiply uncontrollably forming a tumour. Normally, these cancers are sporadic due to somatic mutations. Familial cases are quite rare; only 1-2% are due to germinal mutations. Some of the genes associated with neuroblastoma are PHOX2B, ALK, KIF1B and RAS. Mutations in the latter are associated with a predisposition to neuroblastoma, accompanied by other clinical syndromes like Costello syndrome, Noonan syndrome and neurofibromatosis type 1.

Glioblastomas

This is the most aggressive and common form of brain cancer, which stems from nervous cells, called astrocytes, which support neurons. Hereditary cases are rare and are frequently associated with other tumours like neurofibromatosis type 1 (associated with NF1), Li-Fraumeni syndrome (associated with TP53), melanoma (associated with CDKN2A) and Lynch syndrome (associated with MSH2 and MSH6).
Medulloblastoma: Is a type of very common cancer that affects children. The medulloblastoma starts in the brain, in the area responsible for muscular coordination, movement and balance. Subsequently, it tends to disseminate to other parts of the brain and spinal cord via the cerebrospinal fluid. Hereditary cases are rare and are frequently associated with other tumours like Li-Fraumeni syndrome (associated with TP53), Gorlin syndrome (associated with PTCH1) and Turcot syndrome (associated with APC).

Neurofibromatosis type 1

It is a genetic neurocutaneous disorder that is clinically very heterogeneous. It is characterised by white coffee colour patches, Lisch nodules in the iris, axillar or inguinal freckles and multiple neurofibromas. It is estimated to be prevalent in 1 in 3000 newborns. Neurofibromatosis is generally diagnosed during infancy and follows an autosomal dominant inheritance pattern in the NF1 gene. Tumours are usually benign but in some cases they can become malignant.

Genetic ancestry is based on understanding the diversity distribution among human populations, which reflects the demographic and evolutionary history of our species. Genetic and archaeological evidence indicates that 100,000 years ago, as the size of the human population was rapidly increasing, humans moved from Eastern Africa to settle in other parts of the world. Although the magnitude of these migratory events and the exact definition of the routes they used is still being researched, we know that each population has a specific evolutionary history, which is associated at different stages with other populations. It is so much so that native Americas are more genetically similar to East Asians than to Africans or Europeans. Similarly, migratory flows subsequent to the variation of populations means that some have greater affinities with one another. This explains why contemporary American populations are more related to European populations and some African populations than Asian ones.
Bearing in mind the complexity of evolutionary history, which has shaped the genetic diversity of our species, the extent of variation can be measured that is shared between the genomes of individuals. We can estimate where your ancestors came from by identifying how you are related to individuals from a worldwide population reference panel.
In addition to help you learn about your family history generations ago, knowing your genetic ancestry has a great impact in the field of biomedics, as it is essential to clarify your genotype-phenotype map; namely to establish the relationships between variants of your genome.

Our body is made up of millions of cells. The majority of cells contain a complete set of genes; a set of instructions that control the growth and functioning of our body. In turn, chromosomes and genes are made up of a chemical molecule called DNA. DNA is divided into nuclear (present in the cell’s nucleus) and mitochondrial (present in the cytoplasm) DNA. Mitochondrial DNA is inherited from the mother. In turn, 50% of our genetic information within nuclear DNA is inherited 50% from each parent. Going further back a generation, we have 25% of genetic material from our 4 grandparents and so on.

Genes are found in thread-like structures which are called chromosomes. Normally, we have 46 chromosomes, which we inherit from our parents: 23 from our mother and 23 from our father, thus 46 in total (or 23 pairs). The first 22 pairs are call autosomal and are common to men and women. Pair 23 is called the sex chromosomes. The mother has two sex chromosomes (X) and the man has one X chromosome and one Y chromosome.

But the inheritance process is complex, as we do not inherit DNA sequences from our parents’ chromosomes; they are recombined. We therefore inherit sequences that are a combination of DNA sequence fractions from the father,  influenced by DNA sequence fractions from the mother. For these reasons, our genome looks like a mosaic made of pieces of DNA from our ancestors.

We can distinguish three types of information markers when studying the genetic ancestry of an individual:
• Mitochondrial DNA markers (maternal).
• Y chromosome markers (paternal).
• Autosomal markers (paternal-maternal).
The paternal lineage, being based on the Y chromosome (only present in men), can only be studied in men. The maternal, on the other hand, can be studied independent of the sex of the person being tested.

To undertake the test, we compare the entire sequencing of your mitochondrial DNA (in men, as well as the Y chromosome) with databases of variants described as being specific haplogroups. Haplogroups are groups of genetic variant combinations that have their own geographical spatial distribution patterns. Thus, we can identify in which region of the world your maternal and paternal lineage can be traced respectively.

Thanks to a third type of markers, the autosomal markers, we are able to identify the populations from which your ancestors in your family tree came from, both paternal and maternal. Nevertheless, we cannot distinguish if an origin identified is due to your paternal or maternal family history. In turn, although the information regarding autosomal markers appears to be more exhaustive, the recombination process does not allow us to make certain conclusions like we can with Y chromosome markers and mitochondrial DNA. For this reason, we compile the information provided by these three types of markers so we can get a better picture of your ancestors.

We analysis hundreds of thousands of autosomal markers for a panel of 3531 individuals coming from 142 reference populations from five continents. We select those individuals belonging to populations with their own evolutionary history that are well identified and classed in one of the 12 large groups defined by genetic similarity (see map). We will notify you of your percentage of nuclear DNA that originates from each of these 12 groups.
With these results we can recount the complexity of your family tree. You will be able to know if your ancestors originate from a same population, various close populations or from very distinct populations, as well as identify the region in which they lived.

Various studies have demonstrated that many health conditions or resistance to certain pathologies or infectious agents are conditioned by the individual’s ancestry. The results mentioned previously are an overall approximation. This means that it gives an account of the general patterns of ancestry in your genome. Nevertheless, the potential effect of ancestry is due to specific variations of the regions of your genome, which play a significant role in the physiology of the traits of interest. For example, mixed race siblings from a European mother and a sub-Saharan African father can have a wide range of skin and hair colours according to variants inherited from each of the parents in the genomic regions associated with melanin production.

We are developing an analytical framework to be able to identify the ancestry of each region of our genome. This information helps us to estimate your genotype-phenotype more precisely.

Addiction is defined as a primary disease, which is chronic and recurrently characterised by the search for and compulsive use of psychoactive substances. This is due to physiological and psychological dependencies, which prevail over negative the effects of using them. Psychoactive substances can be classified as depressants (e.g. alcohol), nervous system stimulants (e.g. nicotine, cocaine), opioids (e.g. morphine and heroine) and hallucinogens (e.g. PCP, LSD and cannabis). Some substances, like opiates, are used for treatment purposes to alleviate pain.
Psychoactive substances act on the brain in different ways to produce their effects. They bind to different receptors and can increase or decrease neuron activity through different mechanisms. As a result, they have different behavioural effects, different tolerance appearance rates, different withdrawal symptoms and different long- and short-term effects.

Risk factors are considered to be age, family group, environmental circumstances, development and social environment. In addition are genetic factors, which also influence vulnerability, the start and continuation of addictions and even the type of drug consumed. The addiction to certain substances is a consequence of the interaction of many genes (polygenic), each with an additive effect on the others; as well as environmental effects. It is estimated that genetic factors contribute to 40-60% of vulnerability to develop addictions, whilst environmental factors make up for the remainder. Namely, genes are not the cause of the disease, but provide a greater susceptibility of developing it. Environmental factors could act as triggers, and in many cases, cause relapses. Exposure to psychoactive substances can have a much greater effect on people who carry a genetic vulnerability to dependency than in those without it. The myDNAmap genetic test analyses this predisposition by sequencing the entire genome and analysing genetic variants and markers, as well as those known as polymorphisms, which have been associated with addiction by scientifically proven research. People who start to abuse drugs early are the group who are most at risk of developing an addiction. Knowing predisposition at an early stage through a genetic profile, allows us to act on prevention for this group. And even, in later stages, propose alternatives in terms of diagnosis, psychiatric treatment and pharmacology, in accordance with the specific genetic profile.
We know that vulnerability to drug abuse and dependency comes from a complex interaction of environmental and genetic factors. For this reason, via myDNAapp we collect all information regarding lifestyle habits and health data, so a comprehensive assessment can be made of the risks of exposure to different substances.

According to the World Health Organisation, every year more than 8 million people die as a result of tobacco use. Regular smoking is the main risk factor for cardiovascular diseases and cancers, and for this reason it is one of the most preventable causes of morbidity and mortality worldwide. For the majority of smokers, tobacco use is specifically motivated by nicotine dependency; the main component responsible for the addiction.

There is evidence that suggests that nicotine dependency and persistent smoking are hereditary and are determined by the complex interaction of polygenic and environmental influences. More concrete evidence that genetic factors play a substantial role on tobacco use can be found in the influence of certain genetic variants. Mainly in enzymes that metabolise nicotine, and in neuronal receptors, which detect this compound. Scientific studies support the role of dopaminergic markers and opioids pathways as predictors for dependency and smoking relapse, and other groups of smokers with certain genotypes are associated with an increase in developing nicotine dependency. Reducing smoking prevalence via treatment and prevention is one of the main priorities in international public health.

Cocaine is extracted from the Erythroxylum Coca plant. It is one of the most used illegal drugs throughout the world and its abuse causes serious health issues on an organic, psychiatric and social level. Cocaine and its derivatives, like crack, are highly addictive drugs that act as stimulants on the central nervous system. They affect dopamine levels, which in turn is a key neurotransmitter in the reward pathways of the brain. What starts as an apparently inoffensive experiment can quickly turn into a potentially deadly addiction with devastating personal, professional, financial and family consequences. Cocaine abuse is particularly dangerous, because its continued used can cause heart problems. The most common cause of death in frequent cocaine users is brain haemorrhage or cardiac arrest. Furthermore, cocaine dependency is considered as a complex psychiatric disorder which is highly comorbid and has other psychiatric traits. Although your surroundings play a substantial role in cocaine addiction and its derivatives, genetics also play a significant role in determining if a person who uses the drug will become addicted. Genetic variants have been identified that implicate a greater vulnerability to cocaine addiction.

Opioids are a class of drugs that include the illegal drug heroine*, synthetic opioids (like fentanyl*), some analgesics effective for acute and chronic pain treatment, such as oxycodone, hydrocodone*, codeine*, methadone*, morphine* and many others. In addition, opioids involve gratifying and euphoric effects, which would explain the dose increase characteristic in their addiction, even including those cases resulting as a consequence of their use for pain treatment. We know that opioid sensitivity varies greatly among people, and this is reflected in differences both in the efficacy of analgesic opioids and the susceptibility to dependency of these substances. The heritability of opioid dependency is high, as it is estimated at almost 70%. To date, polymorphisms have been described that are associated with human sensitivities to opiates. Certain genotypes are associated with a greater analgesic requirement and/or less vulnerability to drug dependency. Knowing our opioid-related genotypes can provide valuable information for personalised pain treatment and drug dependency. Furthermore, with regard to pain treatment using opiates, our myDNAmap pharmacogenetic panel assesses the best treatment for your health based on your genome.

*The pharmacogenetic report is part of the full myDNAmap report. We include 11 panels.

Cannabis is extracted from the cannabis sativa plant. Its resin, leaves, stalks and flowers produce the most consumed illegal drugs: hashish and marijuana. Its effects on the brain are due to one of its active ingredients, tetrahydrocannabinol or THC, which is found in different proportions depending on the preparation used. Cannabis use is increasing among the general public and around 9% of its users become dependent. Its use is associated with a variety of health problems, including the risk of psychosis, bipolar disorder, anxiety disorder, depression symptoms and cognitive decline. Genetic factors may explain a large proportion of the risk of developing these disorders, as there is scientific evidence that certain genetic markers are linked to a greater risk of marijuana dependency. Our test analyses certain genetic polymorphisms associated with THC sensitivity, metabolism, a greater risk of psychosis and schizophrenia induced by THC, among others.

The World Health Organisation (WHO) defines alcohol abuse as the chronic consumption of alcohol over a continued period. It is characterised by a deterioration in drink control, frequent drunk episodes, obsession with alcohol and consumption despite its adverse effects. Excessive alcohol consumption is one of the most major public health issues in terms of legal use psychoactive substances. It endangers the person’s development, social and family life.
Alcohol abuse is a chronic, multifactorial, psychiatric disease. The development of which is influenced by numerous physiological, genetic, psychosocial and environmental factors. Not all people that consume alcohol will become alcoholics. One of the trigger factors is vulnerability and biological susceptibility, which is high for alcohol abuse. According to scientific studies and research, it is estimated that between 40 and 60% of alcohol susceptibility is based on genetics, with many variants in numerous genes that contribute to the risk of developing this disorder. In addition, there is the influence of environmental factors. Scientific evidence shows that ethnic variation also affects susceptibility to alcohol consumption. Its excessive consumption is associated with different health conditions, which range from consumption during pregnancy that affects the foetus, to self-harm, liver diseases and neuropsychiatric conditions. Different scientific research associates certain genetic variants with the tolerance of such toxic effects like gratification from alcohol consumption and which, in turn, influences the development of a higher or lesser level of dependency. These genetic variants can be found in genes involved in the absorption, distribution, metabolism and alcohol excretion processes. Individual genetic characteristics can act in combination with environmental factors, causing a greater or lesser tolerance and alcohol addiction.

Our myDNAmap addictions panel analyses more than 70 genetic markers associated with addiction/dependency disorders to different drugs in the following genes:

ABCB1, ADH1C, AKT1, ALDH2, ANK3, ANKK1, CACNA1C, CHRM2, CHRNA3, CHRNA4, CHRNA5, CHRNB4, CNR1, COMT, CREB1, CSNK1E, DDC, DRD1, DRD2, DRD3, DRD4, FAAH, FKBP5, GABBR2, GABRA2, GAL, GHSR, HTR3B, MTHFR, NCAN, OPRD1, OPRM1, SLC6A3, TNF, TPH1, TPH2 

The effect of drugs can be influenced by both environmental (diet, lifestyle etc.) and genetic factors. In the case of genetic factors, certain DNA variants can cause medications have different effects to those expected. This is because the proteins that metabolise and transport and/or their therapeutic targets (receptors) are affected. This influences both drug efficacy and safety. By means of DNA testing, we can find out if a drug, or a treatment combining various drugs, will be beneficial for your health; or if, on the contrary, it may cause damaging effects.
Each person is unique just like their genetic makeup. For this reason, health-related drug treatment must be too. The same drug can produce maximum efficacy without toxicity or alternatively zero benefit and maximum toxicity.

• Pharmacokinetics which describes the quantity of the drug needed to achieve its aim within the body and involves four processes: absorption, distribution, metabolism and excretion.
• Pharmacodynamics which describes how the target cells respond to the drug. Target cells include receptors, ionic chains, enzymes and components of the immune system.

Genetic variation in the genes of the metabolising enzymes (drug receptors and transporters) are associated with an individual variability in drug efficacy and toxicity. Genetics also underlie hypersensitivity reactions in patients allergic to certain drugs.

Due to all of these factors, pharmacogenetics constitutes one of the fundamental pillars of precision and preventative medicine. It offers the opportunity to tailor drug treatment depending on individual genetic characteristics, both when choosing the best treatment, as well as prescribing an appropriate dose. This means administrating the correct drug, at the correct dose, to the correct person.
In the myDNAmap Pharmacology panel we offer the pharmacogenetic test of more than 200 drugs, including the following therapeutic areas: diseases, infections, cardiology, neurology, oncology, psychiatry, respiratory airways, gastroenterology, urogynaecology, rheumatology, metabolism, anaesthesia and pain treatment.

According to the World Health Organisation (WHO), infertility is defined as the inability to become pregnant after 12 months of regular unprotected sex.
Infertility is a relatively common health condition and affects approximately 1 in 6 couples. Clinically speaking, it is highly heterogeneous, with a complex aetiology that affects the reproductive system in both males and females, and which can result from distinct factors: anatomical, hormonal, genetic, infectious, environmental, and lifestyle habits.

Consultations regarding reproduction can be varied and in some situations can cause many physical and emotional disorders. Currently, there is no test that is able to exactly determine a healthy person’s ability to become a mother/father by natural methods. Although the majority of couples still receive an idiopathic infertility diagnosis, it is estimated that 1 in 10 cases are due to genetic factors.

The myDNAmap genetic test based on genome sequencing is intended for people who are interested in learning about their reproductive genetic profile before starting to try for children. It is important to highlight that we only assess the potential risk of genetic variants associated with infertility. There are also acquired factors that are not addressed in our test.
Our panel analyses more than 100 genes related to male and female fertility. In women, we study the genes that are associated with ovarian production and abnormalities of the reproductive and endocrine systems. In men, we study the genes associated with sperm morphology and sperm production and, also, those associated with abnormalities in the reproductive and endocrine systems.

Knowing the reproductive function within your genetic profile in advance, allows you to make informed decisions about available treatments as soon as possible and with a greater chance of success when trying to conceive a child.

ADGRG2, AIRE, AMH, AMHR2, ANOS1, AR, AURKC, BMP15, CAPN10, CATSPER1, CATSPER2, CCDC141, CCDC39, CCDC40, CDC14A, CFAP43, CFAP44, CFAP69, CFTR, CHD7, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DIAPH2, DNAAF2, DNAAF4, DNAH1, DNAH5, DNAI1, DPY19L2, ERCC6, ESR1, F2, F5, FANCA, FANCM, FGF8, FGFR1, FIGLA, FMR1, FOXL2, FSHB, FSHR, GALT, GATA4, GDF9, GNRH1, GNRHR, HFM1, HOXA13, HS6ST1, HSD17B3, HSD3B2, HSF2, INSL3, ANOS1 (KAL1), KISS1R, KLHL10, LHB, LHCGR, LRRC6, MAMLD1, MAP3K1, MCM8, MCM9, MRPS22, MSH5, NANOS1, NOBOX, NR0B1, NR5A1, PADI6, PANX1, PIH1D3, PLCZ1, PMFBP1, POF1B, PROC, PROK2, PROKR2, PROP1, PROS1, PSMC3IP , RSPO1, SEMA3A, SEPTIN12, SERPINC1, SLC26A8, SOHLH1 , SOX10, SOX2, SOX3, SOX9, SPATA16, SRD5A2, SRY, STAG3, SULT2A1, SUN5, SYCE1, SYCP3, TACR3, TAF4B, TEX11, TEX15, TLE6, TUBB8, USP9Y, WDR11, WDR66, WT1, ZMYND15, ZP1

The periconceptional genetic matching test allows us to know the risk of having a child with a genetic disease, even in the case of two healthy parents. In addition, we assess the risk of passing on a genetic condition to your children. By sequencing the entire genome, we analyse more than 700 genes associated with recessive liver diseases, metabolic, neurological, sensory, heart, immunological, dermatological, skeletal, (neuro)muscular, haematological, nephrological, intellectual, hormonal and motor diseases, which can develop in our children. Understanding our carrier state helps us to work with professionals on alternatives available for our future family.

A genetic variant is any change in DNA sequencing and is precisely what makes us unique. Genetic variants can be associated with a disease or physical traits, such as eye colour. A carrier is a person who inherits a specific genetic variant but does not have a disease. Nevertheless, you can pass on this variant to your children. The genetic matching test allows us to identify this risk. Fig. 1

Our DNA or genome contains 46 structures call chromosomes. These are grouped into pairs: the first 22 are called autosomal and are present in men and women. Pair 23 represents the sex chromosomes: XX in females and XY in males. Autosomal recessive genetic variants are those that have an impact on our health when we inherit them from both parents. Nevertheless, if we only inherit them from one parent, they will not impact our life. In this case we say that “we carry” a recessive variant.

They are genetic variants localised in the X chromosome, which determine the female sex. Females have two copies of the X chromosome . One inherited from a mother and one from the father. Therefore, if one of the X chromosome genes has a mutation, the normal gene of the other chromosome may compensate for the altered copy. Fig. 2 Whereas, if a man has a recessive variant linked to the X chromosome, they are going to have the disease, as men only have a single X chromosome, and therefore there is no compensation process.

A woman affected by a recessive disease linked to the X chromosome will pass on the mutated allele to all of her children:

-All daughters will be carriers (but unaffected)
-All children will be affected by the illness

A female carrier has a 50% likelihood of each boy or girl (independent of their sex) inheriting a mutated allele. If a boy inherits it, he will develop the disease and if the girl inherits it she will only be the carrier of the disease. Fig. 3

An affected male, on the other hand, will pass on a mutated allele to all of their daughters, who will be carriers, but not pass it on to any of his sons.