According to the World Health Organization (WHO): Genetics is the study of heredity, while Genomics is defined as the study of genes and their functions, and related techniques. Genomics is a relatively new term, being used more frequently since the mid-1990's. The main difference between genomics and genetics is that genetics scrutinizes the functioning and composition of the single gene whereas genomics addresses all genes and their inter relationships in order to identify their combined influence on the growth and development of the organism.
How are Genetic Conditions Diagnosed?
A doctor may suspect a diagnosis of a genetic condition on the basis of a person's physical characteristics and family history, or on theresults of a screening test.
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What are Complex or Multifactorial Disorders?
Researchers are learning that nearly all conditions and diseases have a
genetic component. Some disorders, such as sickle cell anemia and cystic
fibrosis, are caused by mutations in a single gene.
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How are Genetic Conditions Treated or Managed?
Many genetic disorders result from gene changes that are present in
essentially every cell in the body. As a result, these disorders often
affect many body systems, and most cannot be cured.
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How are Genetic Conditions and Genes Named?
Genetic conditions are not named in one standard way (unlike genes,
which are given an official name and symbol by a formal committee).
Doctors who treat families with a particular disorder are often the
first to propose a name for the condition.
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What is Direct-to-Consumer Genetic Testing?
Traditionally, genetic tests have been available only through healthcare
providers such as physicians, nurse practitioners, and genetic
counselors.
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What Does it Mean if a Disorder Seems to Run in My Family?
A particular disorder might be described as 'running in a family' ifmore than one person in the family has the condition. Some disordersthat affect multiple family members are caused by gene mutations, whichcan be inherited (passed down from parent to child).
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How Can Consumers be Sure a Genetic Test is Valid and Useful?
Before undergoing genetic testing, it is important to be sure that
the test is valid and useful. A genetic test is valid if it provides an
accurate result. Two main measures of accuracy apply to genetic tests:
analytical validity and clinical validity.
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Why is it Important to Know My Family Medical History?
A family medical history is a record of health information about a
person and his or her close relatives. A complete record includes
information from three generations of relatives.
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What do the Results of Genetic Tests Mean?
The results of genetic tests are not always straightforward, which often makes them challenging to interpret and explain.
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Mutations and Health
Mutations and Health
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Will Health Insurance Cover the Costs of Genetic Testing?
In many cases, health insurance plans will cover the costs ofgenetic testing when it is recommended by a person's doctor. Healthinsurance providers have different policies about which tests arecovered, however.
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Genetic Consultation
Genetic Consultation
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What are Reduced Penetrance and Variable Expressivity?
Reduced penetrance and variable expressivity are factors that influence
the effects of particular genetic changes. These factors usually affect
disorders that have an autosomal dominant pattern of inheritance.
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What are the Benefits of Genetic Testing?
Genetic testing has potential benefits whether the results are positive
or negative for a gene mutation. Test results can provide a sense of
relief from uncertainty and help people make informed decisions about
managing their health care.
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What are Single Nucleotide Polymorphisms (SNPs)?
Single nucleotide polymorphisms, frequently called SNPs (pronounced'snips'), are the most common type of genetic variation among people.Each SNP represents a difference in a single DNA building block, called a nucleotide.
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What are the Risks and Limitations of Genetic Testing?
The physical risks associated with most genetic tests are very
small, particularly for those tests that require only a blood sample or
buccal smear (a procedure that samples cells from the inside surface of
the cheek).
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What are Genome-wide Association Studies?
Genome-wide association studies are a relatively new way for scientists to identify genes involved in human disease.
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Gene Therapy
Gene Therapy
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What is the International HapMap Project?
The International HapMap Project is an international scientific effort
to identify common genetic variations among people. This project
represents a collaboration of scientists from public and private
organizations in six countries.
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The Human Genome Project
The Human Genome Project
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What is Genetic Discrimination?
Genetic discrimination occurs when people are treated differently by
their employer or insurance company because they have a gene mutation
that causes or increases the risk of an inherited disorder.
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What is the Encyclopedia of DNA Elements (ENCODE) Project?
The ENCODE Project was planned as a follow-up to the Human Genome
Project. The Human Genome Project sequenced the DNA that makes up the
human genome; the ENCODE Project seeks to interpret this sequence.
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What is Genetic Ancestry Testing?
Genetic ancestry testing, or genetic genealogy, is a way for people
interested in family history (genealogy) to go beyond what they can
learn from relatives or from historical documentation.
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What is Gene Therapy?
Gene therapy is an experimental technique that uses genes to treator prevent disease. In the future, this technique may allow doctors totreat a disorder by inserting a gene into a patient's cells instead ofusing drugs or surgery.
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What Advances are Being Made in DNA Sequencing?
Determining the order of DNA building blocks (nucleotides) in anindividual's genetic code, called DNA sequencing, has advanced the study of genetics and is one method used to test for genetic disorders.
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How Does Gene Therapy Work?
Gene therapy is designed to introduce genetic material into cells to
compensate for abnormal genes or to make a beneficial protein.
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Is Gene Therapy Safe?
Gene therapy is under study to determine whether it could be used to
treat disease. Current research is evaluating the safety of gene
therapy; future studies will test whether it is an effective treatment
option.
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What are the Ethical Issues Surrounding Gene Therapy?
Because gene therapy involves making changes to the body's set of basicinstructions, it raises many unique ethical concerns.
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Is Gene Therapy Available to Treat My Disorder?
Gene therapy is currently available only in a research setting. The
U.S. Food and Drug Administration (FDA) has not yet approved any gene
therapy products for sale in the United States.
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What is a Genome?
A genome is an organism's complete set of DNA, including all of itsgenes. Each genome contains all of the information needed to build andmaintain that organism.
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What Were the Goals of the Human Genome Project?
The main goals of the Human Genome Project were to provide a
complete and accurate sequence of the 3 billion DNA base pairs that make
up the human genome and to find all of the estimated 20,000 to 25,000
human genes.
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What Did the Human Genome Project Accomplish?
In April 2003, researchers announced that the Human Genome Project
had completed a high-quality sequence of essentially the entire human
genome. This sequence closed the gaps from a working draft of the
genome, which was published in 2001.
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What are the Next Steps in Genomic Research?
Discovering the sequence of the human genome was only the first step in
understanding how the instructions coded in DNA lead to a functioning
human being. The next stage of genomic research will begin to derive
meaningful knowledge from the DNA sequence.
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Genetic Testing
Genetic Testing
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What is Pharmacogenomics?
This relatively new field combines pharmacology (the science of drugs)and genomics (the study of genes and their functions) to developeffective, safe medications and doses that will be tailored to aperson's genetic makeup.
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What Is A Gene Mutation and How Do They Happen?
How does a gene mutation happen? Are gene mutations rare?
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Familial Dysautonomia
Familial Dysautonomia, also known as Riley-Day syndrome, affects the development and function of nerves throughout the body.
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Walker Warburg Syndrome
WWS, also known as Walker Warburg Syndrome, is a genetic condition passed on to children of parents with two recessive genes. Both parents must have the recessive gene for children to be born with the condition.
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Can Changes in Chromosomes Affect Health and Development?
Human cells normally contain 23 pairs of chromosomes, for a total of 46chromosomes in each cell. A change in the number of chromosomes can cause problems with growth, development, and function of the body's systems.
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What is the Cost and How Long is the Genetic Testing?
The cost of genetic testing can range from under $100 to more than $2,000, depending on the nature and complexity of the test.
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Common Genetic Conditions Due to Ethnicity
Some genetic disorders are more likely to occur among people who trace their ancestry to a particular geographic area. People in an ethnic group often share certain versions of their genes, which have been passed down from common ancestors.
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Can Number of Genes Affect Health and Development?
People have two copies of most genes, one copy inherited from each parent. In some cases, however, the number of copies varies'meaning that a person can be born with one, three, or more copies of particular genes.
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How Chromosome Structure Affects Health and Development
Changes that affect the structure of chromosomes can cause problems with growth, development, and function of the body's systems. These changes can affect many genes along the chromosome and disrupt the proteins made from those genes.
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How Mitochondrial DNA Affects Health and Development
Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA.
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What Do Statistics Reveal About Genetic Conditions?
Statistical data can provide general information about how common a condition is, how many people have the condition, or how likely it is that a person will develop the condition. Statistics are not personalized, however, they offer estimates based on groups of people.
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How Do Genes Direct the Production of Proteins?
Most genes contain the information needed to make functional molecules called proteins. (A few genes produce other molecules that help the cell assemble proteins.) The journey from gene to protein is complex and tightly controlled within each cell.
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Research Setting Vs. Clinical Genetic Testing
The main differences between clinical genetic testing and research testing are the purpose of the tests and who receives the results.
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What Was the Human Genome Project?
The Human Genome Project was an international research effort to determine the sequence of the human genome and identify the genes that it contains. The Project was coordinated by the National Institutes of Health and the U.S. Department of Energy.
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How Is a Genetic Condition Inherited?
Some genetic conditions are caused by mutations in a single gene. These conditions are usually inherited in one of several straightforward patterns, depending on the gene involved.
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