7 Diseases You Can Learn About from a Genetic Test (2022)

Intro

7 Diseases You Can Learn About from a Genetic Test (1)

In an age of instant information, it's not surprising people want to know as much as possible about their risk of developing certain diseases.

Now, mail-order kits allow us a peek at our genetic destinies, though some have questioned the accuracy of such information. A handful of companies have cropped up that both sell the kits and offer genetic counseling based on the results.

Tests using blood samples usually require a prescription, but others ask consumers to simply spit in a tube or swab the inside of their cheek. Prices range from several hundred dollars on up.

The results tell of genetic markers that, if present, may signal susceptibilities to certain health conditions. These markers, called SNPs (or single nucleotide polymorphisms), are variations in gene sequences. SNPs don't cause disease, but can help determine the chances of developing a certain illness, according to the U.S. Department of Energy's Genome Program.

Results indicating you're at above-average risk for contracting a disease don't guarantee you'll get it, just as results showing no risk markers don't mean you won't. But for some, acting on the information like deciding to quit smoking or make diet changes may help prevent the disease's development or lessen its effects, according to Navigenics, a genetics testing company.

But test results may not be completely trustworthy. According to a July report by the Government Accountability Office (GAO), the mail-order spit tests are often inaccurate or misleading. Some results directly contradicted others, the GAO told members of a House of Representatives subcommittee.

And even when mutations are found, scientists are not always able to translate these to say exactly how much the odds are of developing a disease are raised.

MyHealthNewsDaily has rounded up some of the genes that genetic tests look for, and exactly what's known about these genes.

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Breast and ovarian cancer

The vast majority of the more than 200,000 breast cancer diagnoses given to American women each year occur in those with no known family history of the disease, but 5 to 10 percent are due to up to three genetic mutations in the BRCA1 or BRCA2 genes.

BRCA genes belong to a class known as tumor suppressors, according to the National Cancer Institute (NCI). When mutated, they can allow uncontrolled cell growth. Women with mutations in these genes are about five times more likely to develop breast cancer than those without them, and are between 15 and 40 times more likely to develop ovarian cancer, according to the NCI.

These mutations are more prevalent among women of Ashkenazi Jewish heritage, according to genetic testing company 23andMe.

Celiac disease

7 Diseases You Can Learn About from a Genetic Test (3)

An autoimmune condition triggered by proteins called gluten that are found in wheat, barley and rye, celiac disease attacks the tissues of the small intestine, causing diarrhea and abdominal pain. About 2 million Americans are affected.

Many people with celiac disease have no symptoms, however, and the condition can mimic others such as irritable bowel syndrome. The only treatment is to stick to a gluten-free diet, which prevents intestinal damage.

According to 23andMe, celiac disease is up to 87 percent attributable to genetics. Tests look for specific versions of genes for an immune system protein called HLA-DQ. The protein is is encoded by a set of genes on chromosome 6.

According to Navigenics, about 1 in 22 people with a sibling, parent or child with celiac disease will develop it themselves. Those with a second-degree relative (an aunt, uncle, niece, nephew, grandparent, grandchild or half-sibling) have a 1 in 39 risk.

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7 Diseases You Can Learn About from a Genetic Test (4)

AMD is the most common cause of irreversible vision loss in Americans over age 60. The diseasecauses the retina the tissue at the back of the eye responsible for transmitting images to the brain to deteriorate, resulting in central vision loss crucial for reading, driving or recognizing faces.

According to the NIH, about 1.75 million Americans suffer from AMD. About 200,000 people lose central vision in one or both eyes each year, according to the Macular Degeneration Foundation (MDF).

Genetics and environmental factors account for the development of AMD, according to 23andMe, with up to 71 percent of cases attributable to heredity. Tests focus on a group of genes called ABCR genes, and those with these certain variations in these genes have a 30 percent greater chance of developing AMD, according to the MDF.

According to a study in the journal Nature Genetics, those whose siblings have AMD are between three and six times more likely to develop it than the general population.

Bipolar disorder

7 Diseases You Can Learn About from a Genetic Test (5)

Also known as manic-depressive disorder, bipolar disorder is a mental illness marked by severe mood swings from despair to euphoria, according to the Mayo Clinic. Bipolar disorder affects 5.7 million Americans ages 18 and older, in any given year, according to the NIH.

Bipolar disorder has a strong genetic component, though the SNPs that researchers have identified so far account for only a fraction of cases. Up to 93 percent of cases may be triggered by heredity, according to 23andMe.

Tests look for a protein marker encoded by the ANK3 gene, which is involved in nerve cell structure and function, according to a 2009 study in the journal Molecular Psychiatry.

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The average person's chances of developing bipolar disorder are 2 to 3 percent, according to the Center for Genetics Education in Australia. The risks increase with the number of relatives affected and their degree of relatedness: up to 70 percent if an identical twin is affected, 50 percent if both parents have the disorder, 20 percent if one parent and a sibling has it, and 13 percent if a single sibling has it.

Those with a mutation on a gene called Fat, located on chromosome 4, appear to be at twice the risk of developing bipolar as the average person, though scientists aren't yet sure why, according to the center.

Obesity

7 Diseases You Can Learn About from a Genetic Test (6)

About one-third of Americans are classified as obese, meaning they weigh at least 100 pounds more than their ideal weight or have a body mass index (BMI) of 30 or higher.

Scientists don't yet know how many genes are involved in developing obesity, though 23andMe attributes obesity to heredity in up to 84 percent of those affected.

Variations in a gene called FTO gene account for almost 7 pounds of weight difference, according to the company. A recent study also showed that levels of the FTO gene were higher in fatty tissue, according to 23andMe, and the SNP on the FTO gene seems almost exclusively associated with fat tissue rather than muscle mass or bone density.

Parkinson's disease

7 Diseases You Can Learn About from a Genetic Test (7)

A neurological disorder caused by a loss of dopamine-producing brain cells, Parkinson's disease is marked by trembling in the limbs, jaw and face; stiffness in the limbs and trunk; and or slowed movement and impaired balance and coordination. At least 500,000 Americans have been diagnosed with PD, with another 50,000 diagnosed each year, according to the NIH.

Most cases of PD affect those over 50, and the average lifetime risk of developing it is small about 1 to 2 percent. However, mutations in a gene known as LRRK2 have been linked to a much higher risk of developing PD.

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More than 50 variations of the LRRK2 gene are known, and several are associated with PD. A recent study found that a person who inherits a one mutation in this gene, called the G2019S mutation, from either parent has a 28 percent chance of developing Parkinson's by age 59 and a 74 percent chance by age 79, according to 23andMe.

Psoriasis

7 Diseases You Can Learn About from a Genetic Test (8)

The most prevalent autoimmune condition in the United States, psoriasis affects as many as 7.5 million Americans more than 2 percent of the population, according to the National Psoriasis Foundation.

Characterized by red, scaly lesions that can cover any part of the body, psoriasis is up to 80 percent attributable to genetics, according to 23andMe, and occurs when immune cells known as T-cells attack the skin.

Variations in a gene called HLA-C are associated with psoriasis, and studies have shown that seven other DNA variations are linked to the disease. However, environmental triggers appear to be necessary for psoriasis to develop, and only 10 percent of patients with variations in their HLA do so, according to the National Disease Research Interchange.

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FAQs

What are 7 genetic disorders? ›

Genetic Disorders
  • Genetic Disorders. Sickle Cell Disease.
  • Cystic fibrosis. Cystic Fibrosis Liver Disease.
  • Brain, Nerves and Spine. Huntington's Disease.
  • Cleft lip and palate. Cleft Lip and Palate.

What are 5 common genetic diseases? ›

What are common genetic disorders?
  • Down syndrome (Trisomy 21).
  • FragileX syndrome.
  • Klinefelter syndrome.
  • Triple-X syndrome.
  • Turner syndrome.
  • Trisomy 18.
  • Trisomy 13.
20 Aug 2021

Is ADHD a genetic disorder? ›

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 are 3 types of genetic tests? ›

What are the different 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.
28 Jul 2021

Does genetic testing show autism? ›

No. A genetic test cannot diagnose or detect autism. That's because myriad genes along with environmental factors may underlie the condition. Roughly 100 genes have clear ties to autism, but no single gene leads to autism every time it is mutated.

Can genetic testing diagnose autoimmune diseases? ›

Molecular genetic HLA determination is a tool for the diagnosis and prediction of autoimmune disease risk.

Is autism a genetic disorder? ›

Genetics. Several different genes appear to be involved in autism spectrum disorder. For some children, autism spectrum disorder can be associated with a genetic disorder, such as Rett syndrome or fragile X syndrome. For other children, genetic changes (mutations) may increase the risk of autism spectrum disorder.

Is autism hereditary or genetic? ›

Study Finds 80% Risk From Inherited Genes. A new study looking at autism in 5 countries found that 80 percent of autism risk can be traced to inherited genes rather than environmental factors and random mutations.

How many illnesses are genetic? ›

There are well over 6,000 known genetic disorders, and new genetic disorders are constantly being described in medical literature. More than 600 genetic disorders are treatable. Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder.

Is asthma genetic? ›

It is a complex disease with both genetic and environmental risk factors. Asthma is caused by multiple interacting genes, some having a protective effect and others contributing to the disease pathogenesis, with each gene having its own tendency to be influenced by the environment.

What are human genetic disorders? ›

A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence.

Is OCD genetic? ›

Obsessive-compulsive disorder (OCD) is a serious psychiatric disorder that affects approximately 2% of the populations of children and adults. Family aggregation studies have demonstrated that OCD is familial, and results from twin studies demonstrate that the familiality is due in part to genetic factors.

Which parent passes down ADHD? ›

ADHD runs in families. Anywhere from one-third to one-half of parents with ADHD will have a child with the disorder. There are genetic characteristics that seem to be passed down. If a parent has ADHD, a child has more than a 50% chance of having it.

Is anxiety genetic? ›

Most researchers conclude that anxiety is genetic but can also be influenced by environmental factors. In other words, it's possible to have anxiety without it running in your family.

What is the rarest genetic disorder? ›

According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history.

What are genetic diseases examples? ›

For example, Down syndrome (sometimes referred to as "Down's syndrome") or trisomy 21 is a common genetic disorder that occurs when a person has three copies of chromosome 21. There are many other chromosomal abnormalities including: Turner syndrome (45, X0), Klinefelter syndrome (47, XXY), and.

Can schizophrenia be genetic? ›

Genetics. Schizophrenia tends to run in families, but no single gene is thought to be responsible. It's more likely that different combinations of genes make people more vulnerable to the condition. However, having these genes does not necessarily mean you'll develop schizophrenia.

What is the deadliest genetic disorder? ›

Cystic fibrosis (CF) is the most common, fatal genetic disease in the United States.

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

Sickle Cell Disease: The Most Common Inherited Disease In The World.

What is the rarest genetic disorder? ›

According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history.

Is OCD a genetic disorder? ›

Obsessive-compulsive disorder (OCD) is a serious psychiatric disorder that affects approximately 2% of the populations of children and adults. Family aggregation studies have demonstrated that OCD is familial, and results from twin studies demonstrate that the familiality is due in part to genetic factors.

What are genetic diseases examples? ›

For example, Down syndrome (sometimes referred to as "Down's syndrome") or trisomy 21 is a common genetic disorder that occurs when a person has three copies of chromosome 21. There are many other chromosomal abnormalities including: Turner syndrome (45, X0), Klinefelter syndrome (47, XXY), and.

What are the single gene disorders? ›

Some of the more common single-gene disorders include cystic fibrosis, hemochromatosis, Tay-Sachs, and sickle cell anemia. Even though these diseases are primarily caused by a single gene, several different mutations can result in the same disease but with varying degrees of severity and phenotype.

What are the rarest genetic mutations? ›

10 unusual genetic disorders in humans you won't believe are real
  • Proteus Syndrome. ...
  • Polymelia. ...
  • Neurofibromatosis. ...
  • Diprosopus. ...
  • Anencephaly. ...
  • Feet facing backwards. ...
  • Harlequin ichthyosis. ...
  • Cyclopia. This rare disorder is generally characterized by the failure of the embryo to properly divide the tracks of the eye into two hollows.
18 Sept 2015

What disease is incurable? ›

cancer. dementia, including Alzheimer's disease. advanced lung, heart, kidney and liver disease. stroke and other neurological diseases, including motor neurone disease and multiple sclerosis.

Are blue eyes a mutation? ›

Researchers have finally located the mutation that causes blue eyes, and the findings suggest that all blue-eyed humans share a single common ancestor born 6000 to 10,000 years ago. Researchers have implicated the OCA2 gene in several eye colors.

What diseases can be inherited from parents? ›

Some inherited diseases are more complicated than your genes
  • Alzheimer's disease.
  • Arthritis.
  • Cancer.
  • Dementia.
  • Diabetes.
  • Heart disease.
  • High blood pressure.
  • Multiple sclerosis.
23 Dec 2019

Which disease can be inherited from parent to children? ›

Sickle cell disease affects the shape of red blood cells and their ability to carry oxygen. Normally, red blood cells are round, but in people with this hereditary disease they have a crescent-shaped appearance, causing the red blood cells to stick together, which can lead to a blockage of the small blood vessels.

What does a genetic test look for? ›

Genetic testing looks for changes, sometimes called mutations or variants, in your DNA. Genetic testing is useful in many areas of medicine and can change the medical care you or your family member receives.

What is Kat disease? ›

KAT6A syndrome is an extremely rare genetic neurodevelopmental disorder in which there is a variation (mutation) in the KAT6A gene. Variations in the KAT6A gene can potentially cause a wide variety of signs and symptoms; how the disorder affects one child can be very different from how it affects another.

What disease causes you to age rapidly? ›

Overview. Progeria (pro-JEER-e-uh), also known as Hutchinson-Gilford syndrome, is an extremely rare, progressive genetic disorder that causes children to age rapidly, starting in their first two years of life. Children with progeria generally appear normal at birth.

What is Kabuki syndrome? ›

What is Kabuki syndrome? Kabuki syndrome is a rare congenital disorder, meaning that a child is born with the condition. Children with Kabuki syndrome usually have distinctive facial features, mild to moderate mental impairment and growth problems.

Videos

1. Genetic testing & neurodegenerative disease
(HudsonAlpha Institute for Biotechnology)
2. Genetics and Genetic Testing 101 Lecture - Mayo Clinic
(Mayo Clinic)
3. Genomics of Kidney Disease: Genetic Testing in the Nephrology Practice
(Mayo Clinic)
4. PI-RADS, Active Surveillance Protocols for 3+3=6 & 3+4=7, & Genomic/Genetics Tests | Mark Scholz, MD
(Prostate Cancer Research Institute)
5. Infectious Diseases - An Introduction
(Let's Learn Public Health)
6. Inherited Genetic Disorders | Genetics | Biology | FuseSchool
(FuseSchool - Global Education)

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