Researchers from the NYSCF (New York Stem Cell Foundation) partnered with CUMC (Columbia Medical Center) to create a special technique to stop mitochondrial diseases from genetically passing on to children. The technique is in the earliest clinical stages.
Steroids are prescribed to some women during pregnancy to treat potential preterm delivery. Researchers from the University of Oslo in Norway recently published a
study spanning two years on the possible short- and long-term side
effects on genome expression.
Determining the order of DNA building blocks (nucleotides) in an
individual’s genetic code, called DNA sequencing, has advanced the study
of genetics and is one method used to test for genetic disorders.
This relatively new field combines pharmacology (the science of drugs)
and genomics (the study of genes and their functions) to develop
effective, safe medications and doses that will be tailored to a
person’s genetic makeup.
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.
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.
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
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.
The Ethical, Legal, and Social Implications (ELSI) program was founded in 1990 as an integral part of 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.
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
Gene therapy is an experimental technique that uses genes to treat
or prevent disease. In the future, this technique may allow doctors to
treat a disorder by inserting a gene into a patient’s cells instead of
using drugs or surgery.
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.
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.
In many cases, health insurance plans will cover the costs of
genetic testing when it is recommended by a person’s doctor. Health
insurance providers have different policies about which tests are
The cost of genetic testing can range from under $100 to more than $2,000, depending on the nature and complexity of the test.
The results of genetic tests are not always straightforward, which often makes them challenging to interpret and explain.
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.
Traditionally, genetic tests have been available only through healthcare
providers such as physicians, nurse practitioners, and genetic
Once a person decides to proceed with genetic testing, a medical
geneticist, primary care doctor, specialist, or nurse practitioner can
order the test. Genetic testing is often done as part of a genetic
Genetic testing can provide information about a person’s genes and chromosomes.
Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins.
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.
A doctor may suspect a diagnosis of a genetic condition on the basis
of a person’s physical characteristics and family history, or on the
results of a screening test.
To find a genetics professional in your community, you may wish to
ask your doctor for a referral. If you have health insurance, you can
also contact your insurance company to find a medical geneticist or
genetic counselor in your area who participates in your plan.
A genetic consultation provides information, offers support, and
addresses a patient’s specific questions and concerns. To help determine
whether a condition has a genetic component, a genetics professional
asks about a person’s medical history.
Individuals or families who are concerned about an inherited condition
may benefit from a genetic consultation. The reasons that a person might
be referred to a genetic counselor, medical geneticist, or other
genetics professional include:
A genetic consultation is a health service that provides information and
support to people who have, or may be at risk for, genetic disorders.
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.
Genomic imprinting and uniparental disomy are factors that influence how some genetic conditions are inherited.