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Understanding how Genomic Doctor can support you.
Genomic Screening
Genomic testing refers to testing that looks for variations in several genes or all of the genes at once. It can even look at all the genes as well as the regions in between them (the whole genome), rather than looking at just one or two genes.
Genomic screening can provide a better sense of control and ownership over your health, allowing you to take a more proactive approach to your health. It may motivate you to follow screening and intervention recommendations.
If you do not have records or knowledge of genetic family health history, due to adoption, estrangment or another reason, then genomic screening is one of the few ways to open doors to your genetic health history. While not a traditional care model, it allows you a way to begin to understand family genetics and take action based on the results. These results are only a glimpse into your history, but many people in this situation find it very meaningful.
A single gene may have many possible variations – some make the gene not work and cause a condition (pathogenic variants); others have no effect on how the gene works and others are of unknown significance. Finding that a person has a variation in a gene causing a particular condition does not always tell us how a person is, or will be, affected by that condition. There may be other causes (other genes and/or environmental reasons) that can influence this.
A limitations of genomic screening is that it usually does not test for all pathogenic or disease-causing variants for a particular condition, so the results cannot be used to rule out a condition. If there is a personal or family history that indicates a genetic syndrome, it may be more appropriate to consider more specific genetic testing. Genomic doctor will advise you in these situations.
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Pharmacogenomics
Drugs work in your body in numerous ways. Once you take a medication your body needs metabolise it (break it down) and deliever it to its intended target. How you take a medication and what its purpose is, will influence its effects. Your DNA can affect multiple steps in this process to influence how you respond to the drug.
Pharmacogenomics is the study of how your genome affects how well a medicine will work, as well as trying to understand if it is likely to cause side effects. This increases the ability of your doctor to select meciactions that are right for you rather than having to try several different ones. It can also be used to avoid some drugs which may be likely to cause adverse side effects, or indicate what the best dosage might be, reducing the chance of too much or too little of a medication. Codine ( a pain relief medication) is an example of this. It needs to be metabolised by an enzyme in the liver called CYP2D6. If you have a variation in your DNA which results low levels of this enzyme codine is unlikey to be as effective for for and may increase the risk of side effects.
Many genes are likely to be involved in how you may react to a medication, so choosing the right medication may be complex. Factors that influence how you respond to any one medication is influence by your general health and environmental factors, other medication you are taking as well as your DNA.
One example is the blood thining medication, warfarin. Genetic variaents such as CYP2C9 and VKORC1 can affect the dose you might need and how long it will take to stablise on the right dose, however warfarin is also affected by other medications, diet, your age and the reason you are taking it.
Pharmacogenomic testing is currently used for only a relatively small number of drugs currently, but the field is growing very quickly. Improved understanding of how pharmacogenomics can protect your health and improve your treatment is becoming increasingly important. Genomic doctor can help you understand if pharmocogenic testing will be benifical for you, your ongoing medical treatment, and guide you in appropriate test selection.
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Non-invasive prenatal testing (NIPT)
We each typically have 23 pairs of chromosomes. NIPT tests for a few conditions in the baby where an entire extra copy of a chromosome is present or missing. As NIPT does not analyse all of the baby’s chromosomes and DNA, testing cannot exclude other genetic, chromosome or other health conditions. The test can be done earlier than publically funded screening in New zealand, as early as 10 weeks of pregnancy.
NIPT will test for conditions including Down syndrome (Trisomy 21), Edward syndrome (Trisomy 18), Patau syndrome (Trisomy 13) and certain sex chromosome variations. NIPT is highly accurate for the chromosome conditions that it tests for. The accuracy of the test, however, is not 100%. There are also differences in the accuracy, depending on the chromosome condition. For example, the result for Down syndrome may be more accurate than for the other chromosome conditions tested for. NIPT is therefore only a screening test and if the NIPT result shows that the baby is at high risk of having a chromosome condition, it is lmportant that a diagnostic test is performed, such as chorionic villus sampling (CVS) or amniocentesis, before any decisions are made about continuing the pregancy.
It is possibile that following testing, no results are given. This may be because there is not enough fetal DNA in the mother’s blood, or there is difficulty finding fetal DNA in the mother’s blood.
Genomic doctor can help you identify if NIPT testing is suitable for you and oragnise testing for you if you wish.
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Expert Medical advice & Disease Management
Interpretation, counselling and support of pharmogenomic and genomic testing.
INITIAL CONSULTATIONWe review your personal and family history and address the your questions. Understand your risks based on your family and personal health historyHelp you determine if genomic testing is right for you Assit you to choose the right genomic test most beneficial for youGENETIC TESTINGIf testing is indicated, we handle all the logistics: test requisition, sending the sample kit to the patient and sample collection.POST-TEST SUPPORTHelp you to understand your genomic testing results from a recent or previously ordered genomic testAnswer questions and help you make the most informed health care decisions to inform ongoing medical care and diease mangement.
CLINICAL ACTION PLAN
We create a personalized clinical action plan and partner with you to incorporate geneomic testing results to inform ongoing medical care and disease management where appropriate.
This approach achieves a greater capacity for prevention, since it allows the personalisation of medical care in the future, based on the genomic results.
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Online consultation
The COVID-19 pandemic has introduced us to a new way of life and we have had to adapt to a "new normal". From the way people work, study and shop, to how we interact with others. Telemedicine has changed the way you and genomic doctor can interact. It has made it easier for you to consult a doctor. The convenience of online genomic doctor services means there's no more waiting in the doctor's office. With an online service, you'll be connected to the doctor at your appointment time. It is one of the easiest and safest ways to access medical services. Your health is at your fingertips.
Using telemedicine eliminates the need to drive to your doctor's office and find a parking spot before waiting in a waiting room. Improved accessibility that meets your availability. For busy people, the convenience of online doctor services is one of the biggest advantages. You can simply schedule your visit during a break, or between meetings. Consult with genomic doctor from the privacy of your own home. Once you're connected with genomic doctor via video, it's as if you're sitting in the consulting room, and you'll enjoy the same level of privacy without having to travel physically . Talking about your personal health concerns via a screen can be easier than you think, and since you'll be in the comfort of your own home, the experience could be more relaxed than you expect.
If you're travelling for work or for leisure, you can still seek an appointment and get genomic health advice. As long as you have a stable internet connection, you can meet genomic doctor, ask questions, and get answers , no matter where you are in New Zealand.