Why Genetic Testing | Medicover Genetics (2023)

Why Genetic Testing | Medicover Genetics (1)

Information about genes, genetic disorders and how it all works

Genetic testing?

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Genes & chromosomes

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Genetic variants

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Genetic diseases

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Laws of inheritance

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(Video) Genetic Variation and Disease ~Direct-to-Consumer Genetic Testing~

The process

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How it works

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Genetic testing provides information about your genes and chromosomes. It is a type of medical test that can identify alternations in chromosomes, genes and proteins. It can be diagnostic by identifying the genetic abnormalities causing the observed symptoms, thereby diagnosing a medical condition, or it can be predictive by identifying genetic variants associated with disorders that may appear later in life, thereby assessing a person’s chances of developing a medical condition or passing it on to their children. Genetic testing can provide answers to present or future concerns making it important that it is considered at the forefront of health and well-being.

Several methodologies are used to perform genetic testing:

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Our DNA (deoxyribonucleic acid) carries the information and instructions for making the human body. Sequences of DNA called „genes“ have a unique code and contain the instructions to produce a specific molecule (protein) in our bodies. Each encoded protein carries out a specific function inside the cell. All genetic material within our cells make up the human genome. The genetic material is passed down from parent to child and make up the basis of hereditary. To store this important material, DNA is packaged inside the nucleus of our cells into larger units called chromosomes.

Human cells contain 46 chromosomes consisting of two sets of 23 chromosomes, each set is inherited by one parent. There are 22 autosomes and one pair of sex chromosomes: XX in females or XY in males. Egg and sperm contain only 23 chromosomes, so that when fertilization occurs, the correct total of 46 chromosomes are reproduced in the fertilized egg. Each chromosome contains many genes and the human genome is estimated to contain 20,000 to 25,000 genes. Genes on autosomes have two copies in each cell. Female sex chromosomes „XX“, also have two copies of each gene, while male sex chromosomes „XY“ have only one copy of each gene. This becomes important with regards to genetic disorders caused by changes in DNA sequences in X-linked genes (see below). Although each cell contains the same DNA sequence, only those genes that are required in a cell, are selectively expressed in each cell. For instance, the genes expressed (active) in the heart are different from those in the pancreas.

(Video) What Is Genetic Testing? Understanding the Process and Its Results


Alterations in the DNA sequence of genes (variants) can often lead to drastic changes in the activity driven by the gene. Those changes in DNA sequence can happen in several ways, resulting in an altered protein product that cannot function normally. The variants or mutations range in size. They can affect a single DNA base or even a larger DNA sequence, including loss (deletions) or gain of a sequence (duplications or insertions). For instance, a deletion in the gene that encodes insulin, can result in the inability of the body to control sugar levels and therefore cause a person to be diabetic.

Additionally, changes can occur on the chromosome level and include an aberrant number of chromosomes (aneuploidy). For instance, a person with Down’s syndrome (also called Trisomy 21) carries three copies of chromosome 21, instead of two copies. Not only the number of chromosomes can change but also the chromosomal structure including deletions, duplications, insertions, inversions, or translocations which can have deleterious effects on one or many genes.

However, some variants do not have a negative impact on gene function, such as single nucleotide polymorphisms (SNPs). SNPs are natural variations in DNA sequence that are different amongst individuals.

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A genetic disease can be caused by a change in the DNA sequence which can lead to harmful consequences on the protein function. Those changes can arise by a mutation in one gene (monogenic disorder), by mutations in multiple genes (polygenic disorder) or by damage to chromosomes (changes in the number or structure of entire chromosomes).
Some of those mutations causing genetic disorders can be inherited from one or both parents and are therefore present in the child at birth. Others are acquired „de novo“, meaning the change was not inherited but appears for the first time in one family member as a result of a variant in the egg or sperm, or in the fertilized egg. Those can occur either randomly or due to environmental exposure.

One example of a monogenic disorder is Duchenne Muscular Dystrophy (DMD). DMD is caused by mutation in the dystrophin (or DMD) gene which is located on the X chromosome. Loss of dystrophin causes muscle damage and progressive weakness, starting in early childhood. DMD children often have difficult using their legs for every day activities such as walking and jumping and may eventually need assistance using a wheelchair. Average lifespan (20-30 years) is shortened due to eventual muscle loss of the heart and lungs.

An example of a polygenic disorder is Brugada syndrome (BrS). It is caused by mutations in one of several genes, but most commonly in the SCN5A gene. This gene provides instructions for making a sodium channel which plays a critical role in maintaining the heart’s normal rhythm. Additional genes involved in Brugada syndrome ensure the correct location or function of sodium channels in heart muscle cells or help regulate other ion channels. Disruptions of those ion channels lead to abnormal heart rhythm. If untreated, these irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death.


There are two copies of each gene (alleles), one inherited from each parent and genetic variations are inherited in several ways, depending on two main factors:
1. The location of the gene: is it on an autosome (chromosomes 1-22) or is it on one of the sex chromosomes (X or Y).
2. The number of copies required for protein function: is one copy sufficient for normal function (recessive inheritance pattern) or
are both copies required for normal function (dominant inheritance pattern).
Based on these factors, several modes of inheritance exist.

Autosomal Dominant

When a pathogenic variant in one allele, on an autosome, is sufficient to cause a disease. Therefore only one parent needs to be a carrier of the variant, or the variant appears italicize “de novo”, a variant that appears for the first time in the fertilized egg. Following the laws of Mendelian genetics, there is a 50% chance for a child to inherit the allele from the affected parent.

(Video) Genetic Testing’s Impact on Patient Care – Paige’s Story

Autosomal Recessive

When a pathogenic variant in both alleles of the same gene, on an autosome, are required to cause a disease. Therefore both parents need to be a carriers of the variant for it to appear in the next generation. Following the laws of Mendelian genetics, there is a 50% chance for a child to be a carrier.


When a variant is in a gene that is on the X-chromosome. If the variant is recessive, and the mother is a carrier, the disease will appear in 50% of the sons, and the daughters will have a 50% change of being carriers. X-linked dominant variants will affect boys and girls alike.


Genetic testing starts with the collection of a sample from a patient, extracting DNA and running it through a machine that detects changes in the DNA sequence compared to a reference sequence. The sample can be a simple blood draw or a buccal swab, depending on the required methodology.

Changes in the human genome can be examined in several ways. There are tests that detect changes in chromosome number and structure and tests that detect single nucleotide changes in the DNA sequence. These changes are interpreted by a scientist within the context of the clinical picture provided by the patient and physician. The interpretation of the results rely on an accurate clinical picture, which includes the patient’s gender, age, family history and age of onset of symptoms (if any).

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Genetic testing can provide answers to a health problem or symptoms of unknown origin experienced by a person.
Genetic testing can also provide information on genetic predisposition (the likelihood of a person developing a specific disease), especially for those with a family history of a certain disease, such as cancer.
Therefore, genetic testing could be right for you if:

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You have a strong family history of canceror are diagnosed with cancer

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You are a parent of a child with a genetic disorder or with symptoms of unknown origin

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You have a family history of a genetic disorder

(Video) The Benefits of Genetic Testing In Autism

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You are pregnant or interested in conceiving

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You are a physician and want to find the right test for your patient


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Step 1: Visit a physician specialist or one of our medical geneticists to prescribe the test

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Step 2: A sample is collected at your nearest blood drawing point (accepted samples: EDTA blood, buccal swab)

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Step 3: Sequencing is performed in our accredited laboratory in Germany

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Step 4: A medical report is delivered

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(Video) Hereditary cancers and genetic testing: Mayo Clinic Radio

Step 5: Genetic counselling by our local Medical Counsellors is available upon request

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Why Genetic Testing | Medicover Genetics? ›

Genetic testing is useful in many areas of medicine and can change the medical care you or your family member receives. For example, genetic testing can provide a diagnosis for a genetic condition such as Fragile X or information about your risk to develop cancer. There are many different kinds of genetic tests.

Why do people disagree with genetic testing? ›

In some cases, genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested. The possibility of genetic discrimination in employment or insurance is also a concern.

How is genetic testing related to genetics? ›

Genetic testing is a type of medical test that identifies changes in genes, chromosomes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder.

How accurate is genetic testing? ›

The accuracy of genetic tests to detect mutated genes varies, depending on the condition being tested for and whether or not the gene mutation was previously identified in a family member. Even if you don't have the mutated gene, that doesn't necessarily mean you'll never get the disease.

Why is it difficult to diagnose genetic conditions? ›

A DNA test can be performed on any tissue sample and require very small amounts of sample. For some genetic diseases, many different mutations can occur in the same gene and result in the disease, making molecular testing challenging.

Why genetic testing is ethically wrong? ›

In a large number of instances, when patients receive the results of genetic tests, they are party to information that directly concerns their biologic relatives as well. This familial quality of genetic information raises ethical quandaries for physicians, particularly related to their duty of confidentiality.

What are 2 disadvantages about genetic testing? ›

Some disadvantages, or risks, that come from genetic testing can include:
  • Testing may increase your stress and anxiety.
  • Results in some cases may return inconclusive or uncertain.
  • Negative impact on family and personal relationships.
  • You might not be eligible if you do not fit certain criteria required for testing.

Can genetic testing be inaccurate? ›

Rarely, tests results can be false negative, which occur when the results indicate a decreased risk or a genetic condition when the person is actually affected. In some cases, a test result might not give any useful information. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous.

Does genetic testing test for everything? ›

There is no single genetic test that can detect all genetic conditions. The approach to genetic testing is individualized based on your medical and family history and what condition you're being tested for. Single gene testing. Single gene tests look for changes in only one gene.

What percentage of genetic testing is correct? ›

DNA testing is extremely accurate with a specificity of 98% for both diagnostic and presymptomatic testing, but it does not predict the age of onset.

What is the success rate of genetic testing? ›

The results showed a significantly lower rate of pregnancies in the women who underwent genetic screening, however. Only 25% achieved ongoing pregnancies, compared with 37% of women who were not screened (rate ratio 0.69, 95% confidence interval 0.51 to 0.93).

What is the difference between genetic testing and genetic screening? ›

Genetic screening is done for a particular condition in individuals, groups, or populations without family history of the condition, and genetic testing is done for a particular condition where an individual is suspected of being at increased risk due to their family history or the result of a genetic screening test.

Why is genetics so hard to understand? ›

Several studies suggest genetics is difficult because it contains many abstract concepts (i.e. concepts that cannot be seen directly and are beyond our senses). Many abstract concepts exist at the molecular level, such as 'genes' and 'DNA', since this level includes invisi- ble concepts.

What problems does genetic testing solve? ›

What Can Genetic Testing Find?
  • cystic fibrosis.
  • Tay-Sachs disease.
  • sickle cell disease.
  • Down syndrome.
  • spina bifida.
  • Turner syndrome.
  • von Willebrand Disease.
  • albinism.

Why genetic modification is not good? ›

However, genetic engineering is unpredictable and dangerous, and broadening the application of genetic engineering only furthers the risks. Genetically engineered organisms pose lethal and economic risks to human society.

Does genetic screening devalue human life? ›

Whilst some celebrate this breakthrough in potentially reducing suffering from disability, others predict that this may lead to increased abortions which, they say, could devalue the lives of disabled people and undermine respect for the human condition [Ref: Daily Mail].

What is the right not to know genetic information? ›

In the context of genetic testing, the “right not to know” refers to the idea that adults should be permitted to control whether they receive genetic information—particularly information about the risk of future illness—and that their desire not to know certain kinds of information should be respected.

Do our genes determine who we are? ›

Genes (say: jeenz) play an important role in determining physical traits — how we look —and lots of other stuff about us. They carry information that makes you who you are and what you look like: curly or straight hair, long or short legs, even how you might smile or laugh.

What are three major disadvantages of genetic modification that have been reported? ›

What are the new “unexpected effects” and health risks posed by genetic engineering?
  • Toxicity. Genetically engineered foods are inherently unstable. ...
  • Allergic Reactions. ...
  • Antibiotic Resistance. ...
  • Immuno-suppression. ...
  • Cancer. ...
  • Loss of Nutrition.

What are the disadvantages of genetic technology? ›

  • Potential Harms to Health. New Allergens in the Food Supply. Antibiotic Resistance. Production of New Toxins. Concentration of Toxic Metals. ...
  • Potential Environmental Harms. Cross Contamination. Increased Weediness. Gene Transfer to Wild or Weedy Relatives. ...
  • Unknown Harms to the Environment.
  • Risk Assessment.

Why are genetic tests not 100 accurate? ›

Many false-positive and false-negative results can happen because of 'quirks' in our chromosomes. You can get different estimates of how recently we share ancestors. And it's hard to determine the significance of a mutation you may carry.

What are the criticism of genetic testing? ›

Unproven or invalid tests can be misleading. There may not be enough scientific evidence to link a particular genetic variation with a given disease or trait. Genetic privacy may be compromised if testing companies use your genetic information in an unauthorized way or if your data is stolen.

What are 3 benefits of genetic testing? ›

A positive result can direct a person toward available prevention, monitoring, and treatment options. Some test results can also help people make decisions about having children. Newborn screening can identify genetic disorders early in life so treatment can be started as early as possible.

Which cancers are hereditary? ›

The cancers with the highest genetic contribution include breast, bowel, stomach and prostate cancers. Referral to a specialist cancer genetics service may be appropriate for people with a strong family history of cancer.

What are 3 types of genetic tests? ›

Three major types of genetic testing are available in laboratories: cytogenetic (to examine whole chromosomes), biochemical (to measure protein produced by genes), and molecular (to look for small DNA mutations). (See Chapter 2 and Appendix I for more information.)

Can genetic testing show autism? ›

Genetic testing looks for causes of ASD but cannot be used to diagnose ASD. Some people with ASD have syndromic ASD, meaning that they have other specific features in addition to having ASD, such as looking different from other people in the family or having birth defects.

What is the most complete genetic testing? ›

Genome sequencing: This is the most comprehensive genetic test, and it looks at all of a person's DNA. The findings can point to genetic causes of health conditions, and there may be unrelated secondary findings, as well.

How much of your body is determined by genetics? ›

Answer and Explanation: There is a lot of literature regarding this topic. Some say genetics determines between 30% - 70% of body weight, some say 80%, others say 25%, but most agree it typically varies from person to person and is dependent on not only genes, but also environmental factors.

What percentage of disease is caused by genetics? ›

The nature versus nurture debate remains one of the longest-running discussions among the scientific community.

What is the recommended age for genetic testing? ›

Genetic testing for BRCA1 or BRCA2 mutations is typically not recommended for children younger than 18, but can be considered when your children reach adulthood. Younger children might not be able to understand what your mutation means for you or for them.

How far along can you do genetic testing? ›

The cell-free DNA in a sample of a woman's blood can be screened for Down syndrome, Patau syndrome (trisomy 13), Edwards syndrome, and problems with the number of sex chromosomes. This test can be done starting at 10 weeks of pregnancy. It takes about 1 week to get the results.

What are the four types of genetic testing? ›

There are several types of genetic tests:
  • Molecular tests look for changes in one or more genes. ...
  • Chromosomal tests analyze whole chromosomes or long lengths of DNA to identify large-scale changes. ...
  • Gene expression tests look at which genes are turned on or off (expressed) in different types of cells.
Jul 28, 2021

Does genetic testing test for all cancers? ›

No genetic test can say if you will develop cancer for sure. But it can tell you if you have a higher risk than most people. Only some people with a gene mutation will develop cancer.

What does genetic screening identify? ›

Genetic screening is the process of testing a population for a genetic disease in order to identify a subgroup of people that either have the disease or the potential to pass it on to their offspring.

What is the most difficult topic in genetics? ›

Transcription, translation, and DNA replication, especially when placing these processes in the context of the bigger picture. In general, it seems that molecular mechanisms, such as replication, transcription, translation, etc., are often the most difficult for students to grasp.

Does genetics really matter? ›

Genetics helps to explain: What makes you unique, or one of a kind. Why family members look alike. Why some diseases like diabetes or cancer run in families.

Can you be strong by genetics? ›

The best-studied genes associated with athletic performance are ACTN3 and ACE. These genes influence the fiber type that makes up muscles, and they have been linked to strength and endurance.

Why are people opposed to genetic testing? ›

Arguments against genetic screening

Some feel that genetic screening would lead to discrimination of those individuals, which possess "inferior" genes. Second, people fear that genetic screening will lead to reproductive decisions being based on the genetics of their child.

What genes are inherited from father only? ›

All men inherit a Y chromosome from their father, which means all traits that are only found on the Y chromosome come from dad, not mom. The Supporting Evidence: Y-linked traits follow a clear paternal lineage.

What is the rarest genetic disorder? ›

Hutchinson-Gilford Progeria Syndrome (HGPS)

Is ADHD a genetic disease? ›

Genetics. ADHD tends to run in families and, in most cases, it's thought the genes you inherit from your parents are a significant factor in developing the condition. Research shows that parents and siblings of someone with ADHD are more likely to have ADHD themselves.

What is the most common genetic disorder in the world? ›

Sickle cell disease is an inherited blood disorder and the most common inherited disease worldwide, affecting over 400,000 babies annually with the greatest burden of disease within sub-Saharan Africa.

Why do people disagree with genetic modification? ›

Genetic engineering is dehumanizing because it will create nonhuman, alienated creatures. Genetically engineered people will be alienated from themselves, or feel a confused identify, or no longer feel human, or the human race will feel alienated from itself.

Why do some parents not want to use genetic testing? ›

After talking to a genetic counselor, some people decide not to do genetic testing. It may be too expensive or cause too much worry. Othes might decide not to do it because they don't want to know or it's not going to change any decisions they make.

What is a controversial issue in genetics? ›

Cloning is highly controversial. Animal studies suggest cloning is much more likely than natural methods to result in defects that are lethal or cause serious health problems. Creating a human by cloning is widely seen as unethical, is illegal in most jurisdictions, and is technically difficult.

What are 4 reasons to not allow genetic modification in humans? ›

Reasons to ban germline gene editing include the profound risks to future children, thin medical justifications, reinforcing existing inequalities and creating new forms of discrimination, eroding public trust in responsible science, and undermining global agreements.

What are the biggest criticisms of genetic modification? ›

The key areas of controversy related to genetically modified food (GM food or GMO food) are whether such food should be labeled, the role of government regulators, the objectivity of scientific research and publication, the effect of genetically modified crops on health and the environment, the effect on pesticide ...

What is one of the major criticism against genetic engineering? ›

There are concerns over the inadvertent effects, such as the creation of food that can cause an allergic reaction, GMO that can cause harmful genetic effects, and genes moving from one species to another that is not genetically engineered.

Does genetic testing catch everything? ›

There is no single genetic test that can detect all genetic conditions. The approach to genetic testing is individualized based on your medical and family history and what condition you're being tested for. Single gene testing. Single gene tests look for changes in only one gene.

What is the right not to know in genetic testing? ›

In the context of genetic testing, the “right not to know” refers to the idea that adults should be permitted to control whether they receive genetic information—particularly information about the risk of future illness—and that their desire not to know certain kinds of information should be respected.

Can you refuse genetic testing? ›

The right to make choices about one's health care is protected, in part, by the right to privacy guaranteed by the U.S. Constitution, as well as state constitutions. This includes a right to make certain reproductive choices,13 such as whether to use genetic testing. It also includes a right to refuse treatment.

What is the biggest issue facing genetics? ›

Genetics: Access and Scale

The easy acquisition of statistically relevant and reliable samples for analysis is the foremost challenge in the fields of human and animal genetics.

What are the ethical issues of genetic research? ›

There are a few ethical dilemmas that cause people concern. Being able to actually procure the information that lies in the DNA's structure could result in people being discriminated against for a job or insurance coverage. Another issue that causes controversy is the prospect of selection of fetuses during pregnancy.

What are 2 disadvantages of genetic modification? ›

  • Potential Harms to Health. New Allergens in the Food Supply. Antibiotic Resistance. Production of New Toxins. Concentration of Toxic Metals. ...
  • Potential Environmental Harms. Cross Contamination. Increased Weediness. Gene Transfer to Wild or Weedy Relatives. ...
  • Unknown Harms to the Environment.
  • Risk Assessment.

What are the future implications of genetic testing? ›

What is the future of genetic testing? In the future, we will be able to perform genetic analysis for any genetically encoded feature of a person to diagnose current illness, predict future disease risk, and to define other less medically relevant traits.


1. Genetic Testing for SMA
(The France Foundation)
2. Genetics And Fertility: Chapter 3 - Genetic Testing
(American Society for Reproductive Medicine (ASRM))
3. Genetic Testing For Cancer: What's in Your Genes?
(Memorial Healthcare System)
4. Genetic Testing for Breast Cancer
(Roswell Park Comprehensive Cancer Center)
5. Genetic Testing Before Pregnancy | Infertility TV
(Infertility TV)
6. The Controversial Future of Genetic Testing
(VICE News)


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