Genetic tests for glaucoma, colon cancer, inherited kidney cancer, and other disorders are already helping to identify high-risk individuals before they become ill. In a Chicago hospital, for example, "Patty," who had tested positive for a cancer-related gene mutation called MEN2, has had her thyroid gland removed. She inherited the altered gene from her father who had thyroid cancer.
Because his children have a chance of inheriting the altered gene, doctors tested Patty and her only sibling. Patty turned out to carry the MEN alteration. Because this mutation placed Patty at very high likelihood of developing thyroid cancer, her doctors recommended that she have her thyroid removed. At the time of surgery, Patty's thyroid gland already contained small, potentially lethal, cancers. She now takes a pill every day to replace her thyroid hormones, but her chance of developing MEN-related cancer is very low. This past year scientists discovered a mutated gene that leads to hereditary hemochromatosis HH , a common disorder of iron metabolism, affecting about 1 in individuals of Northern European descent.
Because HH is so common and easily treatable, it potentially provides an excellent example for offering genetic testing on a large scale to identify people at risk for a disease and enabling them to avoid becoming ill. The major symptoms of HH - liver cirrhosis, heart deterioration, and other organ failures - don't occur until mid-life, and left untreated, the disease causes early death.
But treatment by simple blood letting to remove excess iron allows people with HH to live a normal lifespan. Today, genetic tests are available primarily in academic medical centers for some disorders, most of which are rare. Genetic tests can identify DNA alterations in people who have already developed a disease, in healthy persons who may be at risk of developing a genetic disorder later in life, or in people who are at risk of having a child with an inherited disorder.
Over the next decade, genetic testing will become ever more commonplace throughout the health care system. For example, an NIH Consensus Development Panel recently recommended that genetic testing for cystic fibrosis mutations be offered to all couples planning a pregnancy or seeking prenatal testing.
This is the first time that offering genetic testing has been recommended for such a large population group. Genetic technologies will soon play a role in nearly every field of health care. Genetic tests can save health care dollars by identifying those in high-risk families who might benefit from close medical surveillance, and who might not. Two of her brothers and her father were diagnosed with colon cancer, and her grandmother died of uterine cancer. Of course, Beth was concerned that she too might develop cancer. About 10 years ago, she asked her doctor about her colon cancer risk, but Beth's family history pattern did not fit a known syndrome at the time.
With no genetic test available for her condition, her doctor could only say that her risk of colon cancer was higher than average. Worried about her risk, and wanting to detect any cancers early, Beth began an annual program of expensive and uncomfortable colonoscopies. Six years after Beth first inquired about her cancer risk, an experimental genetic test became available that could tell Beth if she inherited the genetic alteration that caused the cancer in her family.
Beth took this simple test and learned she had not inherited the cancer-causing alteration. Immediately, Beth stopped the annual colonoscopies, saved thousands of dollars for both her and her insurance company, and brought an end to the unnecessary medical procedure.
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Perhaps most importantly, because she now knew that her risk for colon cancer was no greater than that of the general population, Beth gained peace of mind for herself and for her two children. The Human Genome Project HGP has given us the technology to decipher what were once an individual's most personal and intimate "family secrets," that is, the information contained in our DNA.
The instructions encrypted in our genes affect nearly every function a human body carries out - in a moment, a day, or a lifetime.
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Research to understand those instructions offers the promise of better health because it gives researchers and clinicians critical information to work out therapies or other strategies to prevent or treat a disease. What if we could prevent or reduce the effects of many common diseases by simple changes in lifestyle or avoidance of specific environmental substances? Many of the diseases we face - such as high blood pressure and other familiar diseases of the heart and circulatory system, diabetes, obesity, cancer, psychiatric illness, asthma, arthritis - have been difficult to study and treat because almost all involve subtle actions of several genes and the environment.
Scientists are rapidly developing advanced technologies to identify each of the genes that contribute to a complex disorder and study their interactions all at once. The goal is to tease apart which disease components are genetic and which are environmental. The slowest part of a disease-gene hunt nowadays is sorting through all the genes in the target region on a chromosome and determining which one is responsible for the disease. But this is rapidly changing.
New gene maps now pinpoint the locations of more than one-fourth of all human genes, and more are developed every day. The complete set of genetic instructions will give researchers basic information about how a human cell works as a system, or how the cells of a brain or a heart work together, or how a single fertilized cell develops into a fully formed baby.
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Spelling out, letter by letter, the complete genetic instructions of a human being will bring with it new technologies that make identifying DNA differences effortless compared with what we can do today. Imagine analyzing your genetic composition on a computer chip, carrying your DNA "bar code" on a small plastic card, encrypted to protect privacy, that lets health care professionals instantly know your predisposition to disease, your reactions to drugs, or your susceptibility to certain environmental exposures.
All of these will become realities as we continue to make advancements in genetics. The ability to examine our DNA for the presence of disease-related alterations opens the door to a new twist on an old injustice: "genetic" discrimination - when people, either as groups or individuals, are treated unfairly because of the content of their DNA. The increased availability of genetic information raises concerns about who will have access to this potentially powerful information. Each of us has between 5 and 30 misspellings or alterations in our DNA; thus, we could all be targets for discrimination based on our genes.
Like racism, sexism, and other forms of prejudice, genetic discrimination devalues diversity, squanders potential and ignores achievement. Genetic information has been used to discriminate against people in the past. In the early s, some insurance companies denied coverage and some employers denied jobs to African Americans who were identified as carriers for sickle-cell anemia, even though they were healthy and would never develop the disease.
Of particular concern is the fear of losing or being denied health insurance because of a possible genetic predisposition to a particular disease. For example, a woman who carries a genetic alteration associated with breast cancer, and who has close relatives with the disease, has an increased risk of developing breast and ovarian cancer. Knowledge of this genetic status can enable women in high-risk families, together with their health care providers, to better tailor surveillance and prevention strategies.
However, because of a concern that she or her children may not be able to obtain or change health insurance coverage in the future, a woman currently in this situation may avoid or delay genetic testing. These are real concerns for too many Americans.
In a recent survey of people in families with genetic disorders, 22 percent indicated they, or a member of their family, had been refused health insurance on the basis of their genetic information. The overwhelming majority of those surveyed felt that health insurers should not have access to genetic information. A Harris poll of the general public found a similar level of concern. Over 85 percent of those surveyed indicated they were very concerned or somewhat concerned that insurers or employers might have access to and use genetic information. Discrimination in health insurance, and the fear of potential discrimination, threaten both society's ability to use new genetic technologies to improve human health and the ability to conduct the very research we need to understand, treat, and prevent genetic disease.
To unravel the basis of complex disorders in the large numbers of individuals they affect, scientists must analyze the DNA of many hundreds of people for each disease they study.
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Search for books, journals or webpages All Pages Books Journals. However, the majority of discoveries are still to come. A new era is seeing major developments in the function and variability of the genome, the use of genetic and genomic tools and the analysis of the genetic basis of various biological phenomena. Frontiers in Genetics covers the areas of research in the specialty sections outlined below. All specialty sections are open-access and publish original research, reviews, opinions and commentaries. This comprises the full spectrum of genetic and genomic inquiry, from the most basic to the most clinically applied, incorporating methodology, applications, and implications.
Frontiers in Genetics is composed of the following Specialty Sections:.
Applied Genetic Epidemiology. Behavioral and Psychiatric Genetics. Bioinformatics and Computational Biology. Cancer Genetics. Epigenomics and Epigenetics.
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Evolutionary and Genomic Microbiology. Evolutionary and Population Genetics. Genetic Disorders. Genetics of Aging. Genomic Assay Technology. Genomic Medicine.
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Human Genomics. Livestock Genomics. Pharmacogenetics and Pharmacogenomics. Statistical Genetics and Methodology. Stem Cell Research. Systems Biology. When submitting a manuscript to Frontiers in Genetics, authors must submit the material directly to one of the specialty sections.