TUESDAY, Feb. 6 (HealthDay News) -- The U.S. Food and Drug Administration has approved a test designed to predict the chances of breast cancer returning or spreading within five to 10 years after a woman's initial cancer.
The MammaPrint test studies "the patterns of behavior" of some 70 genes that may play a part in tumor recurrence, offering doctors a better chance of predicting the chances of a tumor returning or spreading, the FDA said in a statement.
The gene activity is measured from a sample of a woman's surgically removed tumor. The test was developed by Agendia, a laboratory based in the Netherlands, where the product has been on the market since 2005, the FDA said.
MammaPrint is the first in a class of complex molecular tests known as an in vitro diagnostic multivariate index assay. As part of the approval process, Agendia submitted clinical data from 302 patients at five European study centers showing that the test was useful in predicting cancer recurrence among women under age 61 who had early-stage breast tumors that were five centimeters or smaller, the agency said.
The American Cancer Society predicts more than 178,000 new cases of breast cancer will be diagnosed this year among U.S. women, and more than 40,000 are likely to die from the disease.
More information
To learn more about the MammaPrint test, see the U.S. Food and Drug Administration's approval announcement.
Genetic testing allows the geneticdiagnosis of vulnerabilities to inherited diseases, and can also be used to determine a person's ancestry. Every person carries two copies of every gene, one inherited from their mother, one inherited from their father. The human genome is believed to contain around 25,000 - 35,000 genes. In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for the possible presence of genetic diseases, or mutant forms of genes associated with increased risk of developing genetic disorders. Genetic testing identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders. 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. Several hundred genetic tests are currently in use, and more are being developed.
Since genetic testing may open up ethical or psychological problems, genetic testing is often accompanied by genetic counseling.
Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders. 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. Several hundred genetic tests are currently in use, and more are being developed.
Genetic testing is voluntary. Because testing has both benefits and limitations, the decision about whether to be tested is a personal and complex one. A genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.
What are the types of genetic tests?
Genetic testing can provide information about a person’s genes and chromosomes. Available types of testing include:
Newborn screening
Newborn screening is used just after birth to identify genetic disorders that can be treated early in life. Millions of babies are tested each year in the United States. All states currently test infants for phenylketonuria (a genetic disorder that causes mental retardation if left untreated) and congenital hypothyroidism (a disorder of the thyroid gland). Most states also test for other genetic disorders.
Diagnostic testing
Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms. Diagnostic testing can be performed before birth or at any time during a person’s life, but is not available for all genes or all genetic conditions. The results of a diagnostic test can influence a person’s choices about health care and the management of the disorder.
Carrier testing
Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. This type of testing is offered to individuals who have a family history of a genetic disorder and to people in certain ethnic groups with an increased risk of specific genetic conditions. If both parents are tested, the test can provide information about a couple’s risk of having a child with a genetic condition.
Prenatal testing
Prenatal testing is used to detect changes in a fetus’s genes or chromosomes before birth. This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder. In some cases, prenatal testing can lessen a couple’s uncertainty or help them make decisions about a pregnancy. It cannot identify all possible inherited disorders and birth defects, however.
Preimplantation testing
Preimplantation testing, also called preimplantation genetic diagnosis (PGD), is a specialized technique that can reduce the risk of having a child with a particular genetic or chromosomal disorder. It is used to detect genetic changes in embryos that were created using assisted reproductive techniques such as in-vitro fertilization. In-vitro fertilization involves removing egg cells from a woman’s ovaries and fertilizing them with sperm cells outside the body. To perform preimplantation testing, a small number of cells are taken from these embryos and tested for certain genetic changes. Only embryos without these changes are implanted in the uterus to initiate a pregnancy.
Predictive and presymptomatic testing
Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, often later in life. These tests can be helpful to people who have a family member with a genetic disorder, but who have no features of the disorder themselves at the time of testing. Predictive testing can identify mutations that increase a person’s risk of developing disorders with a genetic basis, such as certain types of cancer. Presymptomatic testing can determine whether a person will develop a genetic disorder, such as hemochromatosis (an iron overload disorder), before any signs or symptoms appear. The results of predictive and presymptomatic testing can provide information about a person’s risk of developing a specific disorder and help with making decisions about medical care.
Forensic testing
Forensic testing uses DNA sequences to identify an individual for legal purposes. Unlike the tests described above, forensic testing is not used to detect gene mutations associated with disease. This type of testing can identify crime or catastrophe victims, rule out or implicate a crime suspect, or establish biological relationships between people (for example, paternity).
How is genetic testing done?
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 consultation.
Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek. The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorder. The laboratory reports the test results in writing to a person’s doctor or genetic counselor.
Newborn screening tests are done on a small blood sample, which is taken by pricking the baby’s heel. Unlike other types of genetic testing, a parent will usually only receive the result if it is positive. If the test result is positive, additional testing is needed to determine whether the baby has a genetic disorder.
Before a person has a genetic test, it is important that he or she understands the testing procedure, the benefits and limitations of the test, and the possible consequences of the test results. The process of educating a person about the test and obtaining permission is called informed consent.
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. Healthcare providers order the appropriate test from a laboratory, collect and send the samples, and interpret the test results. Direct-to-consumer genetic testing refers to genetic tests that are marketed directly to consumers via television, print advertisements, or the Internet. This form of testing, which is also known as at-home genetic testing, provides access to a person’s genetic information without necessarily involving a doctor or insurance company in the process.
If a consumer chooses to purchase a genetic test directly, the test kit is mailed to the consumer instead of being ordered through a doctor’s office. The test typically involves collecting a DNA sample at home, often by swabbing the inside of the cheek, and mailing the sample back to the laboratory. In some cases, the person must visit a health clinic to have blood drawn. Consumers are notified of their results by mail or over the telephone, or the results are posted online. In some cases, a genetic counselor or other healthcare provider is available to explain the results and answer questions. The price for this type of at-home genetic testing ranges from several hundred dollars to more than a thousand dollars.
The growing market for direct-to-consumer genetic testing may promote awareness of genetic diseases, allow consumers to take a more proactive role in their health care, and offer a means for people to learn about their ancestral origins. At-home genetic tests, however, have significant risks and limitations. Consumers are vulnerable to being misled by the results of unproven or invalid tests. Without guidance from a healthcare provider, they may make important decisions about treatment or prevention based on inaccurate, incomplete, or misunderstood information about their health. Consumers may also experience an invasion of genetic privacy if testing companies use their genetic information in an unauthorized way.
Genetic testing provides only one piece of information about a person’s health—other genetic and environmental factors, lifestyle choices, and family medical history also affect a person’s risk of developing many disorders. These factors are discussed during a consultation with a doctor or genetic counselor, but in many cases are not addressed by at-home genetic tests. More research is needed to fully understand the benefits and limitations of direct-to-consumer genetic testing.
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. Therefore, it is important for patients and their families to ask questions about the potential meaning of genetic test results both before and after the test is performed. When interpreting test results, healthcare professionals consider a person’s medical history, family history, and the type of genetic test that was done.
A positive test result means that the laboratory found a change in a particular gene, chromosome, or protein of interest. Depending on the purpose of the test, this result may confirm a diagnosis, indicate that a person is a carrier of a particular genetic mutation, identify an increased risk of developing a disease (such as cancer) in the future, or suggest a need for further testing. Because family members have some genetic material in common, a positive test result may also have implications for certain blood relatives of the person undergoing testing. It is important to note that a positive result of a predictive or presymptomatic genetic test usually cannot establish the exact risk of developing a disorder. Also, health professionals typically cannot use a positive test result to predict the course or severity of a condition.
A negative test result means that the laboratory did not find a change in the gene, chromosome, or protein under consideration. This result can indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic mutation, or does not have an increased risk of developing a certain disease. It is possible, however, that the test missed a disease-causing genetic alteration because many tests cannot detect all genetic changes that can cause a particular disorder. Further testing may be required to confirm a negative result.
In some cases, a negative result might not give any useful information. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. Uninformative test results sometimes occur because everyone has common, natural variations in their DNA, called polymorphisms, that do not affect health. If a genetic test finds a change in DNA that has not been associated with a disorder in other people, it can be difficult to tell whether it is a natural polymorphism or a disease-causing mutation. An uninformative result cannot confirm or rule out a specific diagnosis, and it cannot indicate whether a person has an increased risk of developing a disorder. In some cases, testing other affected and unaffected family members can help clarify this type of result.
What is the cost of genetic testing, and how long does it take to get the results?
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 cost increases if more than one test is necessary or if multiple family members must be tested to obtain a meaningful result. For newborn screening, costs vary by state. Some states cover part of the total cost, but most charge a fee of $15 to $60 per infant.
From the date that a sample is taken, it may take a few weeks to several months to receive the test results. Results for prenatal testing are usually available more quickly because time is an important consideration in making decisions about a pregnancy. The doctor or genetic counselor who orders a particular test can provide specific information about the cost and time frame associated with that test.
Will health insurance cover the costs of genetic testing?
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 covered, however. A person interested in submitting the costs of testing may wish to contact his or her insurance company beforehand to ask about coverage.
Some people may choose not to use their insurance to pay for testing because the results of a genetic test can affect a person’s health insurance coverage. Instead, they may opt to pay out-of-pocket for the test. People considering genetic testing may want to find out more about their state’s privacy protection laws before they ask their insurance company to cover the costs. (Refer to What is genetic discrimination? for more information.)
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. For example, a negative result can eliminate the need for unnecessary checkups and screening tests in some cases. 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.
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). The procedures used for prenatal testing carry a small but real risk of losing the pregnancy (miscarriage) because they require a sample of amniotic fluid or tissue from around the fetus.
Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. People may feel angry, depressed, anxious, or guilty about their results. 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. (Refer to What is genetic discrimination? for additional information.)
Genetic testing can provide only limited information about an inherited condition. The test often can’t determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time. Another major limitation is the lack of treatment strategies for many genetic disorders once they are diagnosed.
A genetics professional can explain in detail the benefits, risks, and limitations of a particular test. It is important that any person who is considering genetic testing understand and weigh these factors before making a decision.
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. People who undergo genetic testing may be at risk for genetic discrimination.
The results of a genetic test are normally included in a person’s medical records. When a person applies for life, disability, or health insurance, the insurance company may ask to look at these records before making a decision about coverage. An employer may also have the right to look at an employee’s medical records. As a result, genetic test results could affect a person’s insurance coverage or employment. People making decisions about genetic testing should be aware that when test results are placed in their medical records, the results might not be kept private.
Fear of discrimination is a common concern among people considering genetic testing. Several laws at the federal and state levels help protect people against genetic discrimination; however, genetic testing is a fast-growing field and these laws don’t cover every situation.
How does genetic testing in a research setting differ from clinical genetic testing?
The main differences between clinical genetic testing and research testing are the purpose of the test and who receives the results. The goals of research testing include finding unknown genes, learning how genes work, and advancing our understanding of genetic conditions. The results of testing done as part of a research study are usually not available to patients or their healthcare providers. Clinical testing, on the other hand, is done to find out about an inherited disorder in an individual patient or family. People receive the results of a clinical test and can use them to help them make decisions about medical care or reproductive issues.
It is important for people considering genetic testing to know whether the test is available on a clinical or research basis. Clinical and research testing both involve a process of informed consent in which patients learn about the testing procedure, the risks and benefits of the test, and the potential consequences of testing.
Shouldn't there be a legal requirement for all relevant family health information to be handed on when there is an adoption and updated throughout life?
Genetic testing (and other forms of diagnostic testing) is a lot more effective if you know what to test for
Better still do away with all secrecy in adoption and any other kind of substitute parenting
I've been able to find out from actually meeting members of my natural family that there are several instances of type 2 diabetes, I know from being able to obtain death certificates (which show cause of death in the UK) that there have been instances of various types of heart disease including one brother who died at 32 from coronary thrombosis. I wouldn't have been able to obtain death certificates if I had not known those people were ever alive in the first place, if I'd not known the names of my parents and grandparents how could I have found out what they died of? Likewise my relatives now know to keep a look out for autoimmune disease because I have Crohn's a condition that is often misdiagnosed in young adults as dietary or endocrine disorder
I've been able to adjust my lifestyle to account for the health risks that I know about without the need for expensive genetic testing and been able to foreworn my GP what to keep an eye out for
It's the secrecy in adoption that is fatal to so many who've adopted, there really should be a statutory duty of candour re health issues in adoption
Yes where there's a lack of of family medical history we need state funded genetic testing but first and foremost we need openness, secrecy kills
In my case, my health issues were all experienced by myself as "surprises". Having a lumptectomy on my left breast within a week of discovery in my early thirties was not a nice sort of life-event a young healthy breast feeding mother of two should expect, when she's told both natural parents were "healthy".
I don't know if I have siblings.
I don't know if either parent is alive, they live in another country. What I do know about my story has been lie after lie.
An adoptee should not have to go to the lengths you did, Robin, to get bits and pieces of genetic information out, so you can get answers for your medical bills.
Maybe Open Adoption laws are different, as many hospitals in America are now doing infant genetic screening for certain diseases, but there are huge numbers of adult adoptees in this world living with illnesses, not knowing if they are the result of lifestyle or genetics.
In all honesty, I've never given medical issues that much attention. Being adopted within my family it was not difficult to get information about my history, although the validity of that information is of course debatable.
For adoptees who have no clue about their heritage I can understand this to be a serious issue. Genetic screening can of course help out here, but where to start? Genetic screening as I understand it is most often used to check if a certain genetic disease that are known to run in the family. If I am informed correctly there are some 900 tests available at the moment. For non-adoptees genetic testing would mean doing one or maybe a few of those tests, but for adoptees who have no clue what runs in the family it would require running all 900 tests. The cost of each test ranging from $200 to $3000, running all tests would cost at least a six figure amount. That no adoptee, except for the most wealthy can afford. Claiming the right for all adoptees to have comprehensive screening is fair and could serve as a very powerful means to make an end to the secrecy involved in adoption.
One of the by-products of human consciousness is self-consciousness, that is, knowing deeply that you are alive.
Part of self-consciousness is also wondering where we came from; it's clearly human nature to seek one's roots.
For some people, that task is relatively easy because there are oral legends or written words that go back at least several generations (assuming family history is passed down accurately). But for most people, the path backwards is rocky, cluttered with confusing detour signs, or simply blank.
For Americans, citizens of the quintessential melting pot, the quest for identity often propels older people (it's interesting that we often search for our dead relatives while looking death square in the face) to the lists of immigrants into Ellis Island or other ports of entry into the United States and to the repository of genealogy in Salt Lake City.
It also leads unwary seekers of the past right into the hands of scam artists who claim they can trace anyone's DNA back to its source.
Anyone with a spare $100 to $900 can buy a "DNA ancestry kit." Self-collection of DNA requires only a quick swab of the inside of the mouth to gather cheek cells. Mail that smear back and the company will then compare your DNA to various other samples.
But claims that this analysis will tell you much about where you came from are downright fraudulent, anthropologist Deborah Bolnick of the University of Texas at Austin and 14 co-authors recently reported.
Instead of tracing our genetic past, what we get is a scientific scam.
"It sure looks like science," says anthropologist Jonathan Marks of the University of North Carolina, Charlotte, one of the authors of the study. "Well, it is science. It’s done by scientists, and it’s done on DNA samples. And it produces real data."
But, Marks points out, these companies are preying on the public because they simply don’t have enough comparative information to pinpoint a gene on a world map. They might match your DNA to some group on some continent, but what they don’t tell you is that you would probably also match the group next door if only they had some of those samples as well.
More insidious, these companies pretend to trace your unique ancestry through mitochondrial DNA, but that’s simply not possible. A few hundred years, a few generations, and every person's history is a genetic mishmash. One little gene isn't going to inform anybody about anything.
As Marks puts it, "That’s the beauty of this scam. The companies aren’t scamming you. They’re not giving you fraudulent information. They are giving you data, real data, and allowing you to scam yourself."
Humans have, in fact, turned the whole world into one large genetic melting pot. We have always been a species that crossed mountains, continents and oceans; we have always loved to mate outside our ancestral group.
If you want to know who you are, look in the mirror. Written on your face is countless generations that have survived to reproduce, and the only thing you can realistically do at this point is thank them and then move forward.
Meredith F. Small is an anthropologist at Cornell University. She is also the author of "Our Babies, Ourselves; How Biology and Culture Shape the Way We Parent" (link) and "The Culture of Our Discontent; Beyond the Medical Model of Mental Illness" (link).
If you are adopted adult, be sure to tell your physician. Likewise, if you are the parent of an adopted child, be sure to inform the pediatrician. This may seem self-evident, but people have strong opinions on whether to talk about their adopted status or keep it entirely confidential. There are cases where even the family doctor has been uninformed that a child is adopted.
It is important to take your doctor into your confidence because physicians rely in part on family history to alert them to possible problems, and may even order certain diagnostic tests based on family history. Saying that there is no history of cancer in your family, for example, has different implications if you are speaking of your biological or adopted family. http://www.genetichealth.com/Resources_Adoptees_and_Genetic_Information.shtml
Denial of critically important information is perhaps the biggest issue adoptees face, and this is an issue that comes back to haunt some in ways few can fathom until it becomes a real-life medical nightmare. Imagine being denied preventative health-care because you were denied the truth about your origins. I know I was not told the "whole truth" about my natural parent's ethnic-origins, and I sure wasn't told anything about my mother's gyncological health history. I would not have been spared some realities, but I could at least have been prepared so future decisions could have been based on fact, not fallacy.
The cost of denial goes far deeper than the simple price of genetic sceening, yet we live in a world where cost-effectiveness rules the minds of those making money.
Imagine not having any health-insurance and reading the following:
The cost of genetic testing ranges from several hundred to several thousand dollars. Costs vary according to factors including:
whether a previously-identified mutation exists in the family
whether the family's ancestry suggests the possibility of a particular mutation (for instance Jewish founder mutations or Polish founder mutations)
which hereditary predisposition is being tested for
whether an expedited test (with results in 7-10 days) has been ordered
Most insurance companies will cover the cost of genetic testing in individuals who have either a personal history or family history of cancer and who meet certain guidelines.
Financial assistance for diagnosis or treatment of cancer is sometimes available. Fewer resources are available for those seeking assistance with the cost of genetic counseling or testing, or preventive options such as chemoprevention or prophylactic surgery. Preventive medicine is sometimes considered elective and, therefore, not always covered by assistance programs. Requesting help from a health care professional who is knowledgeable in genetics ensures that the genetic test ordered for you is appropriate. A genetics counselor or expert can also help you request medical reimbursement for testing. http://www.facingourrisk.com/finding_health_care/financial_help.html
Whether an adoptee chooses to have genetic screening or not is indeed a very personal decision, however I believe the option to know truthful medical information ought to be a given, not a perk that can be denied.
Comments
New Age Search and Recovery Efforts
For the adoptee, who has started life with a great disadvatage, perhaps there can be good news if such screening was ever eligible for us:
New Test Predicts Chances of Breast Cancer Return
Based on a woman's genetic profile
http://www.healthday.com/Article.asp?AID=601681
TUESDAY, Feb. 6 (HealthDay News) -- The U.S. Food and Drug Administration has approved a test designed to predict the chances of breast cancer returning or spreading within five to 10 years after a woman's initial cancer.
The MammaPrint test studies "the patterns of behavior" of some 70 genes that may play a part in tumor recurrence, offering doctors a better chance of predicting the chances of a tumor returning or spreading, the FDA said in a statement.
The gene activity is measured from a sample of a woman's surgically removed tumor. The test was developed by Agendia, a laboratory based in the Netherlands, where the product has been on the market since 2005, the FDA said.
MammaPrint is the first in a class of complex molecular tests known as an in vitro diagnostic multivariate index assay. As part of the approval process, Agendia submitted clinical data from 302 patients at five European study centers showing that the test was useful in predicting cancer recurrence among women under age 61 who had early-stage breast tumors that were five centimeters or smaller, the agency said.
The American Cancer Society predicts more than 178,000 new cases of breast cancer will be diagnosed this year among U.S. women, and more than 40,000 are likely to die from the disease.
More information
To learn more about the MammaPrint test, see the U.S. Food and Drug Administration's approval announcement.
-- Scott Roberts
Last Updated: Feb. 06, 2007
Copyright © 2007 ScoutNews, LLC. All rights reserved.
What IS genetic screening?
Genetic testing
Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a person's ancestry. Every person carries two copies of every gene, one inherited from their mother, one inherited from their father. The human genome is believed to contain around 25,000 - 35,000 genes. In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for the possible presence of genetic diseases, or mutant forms of genes associated with increased risk of developing genetic disorders. Genetic testing identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders. 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. Several hundred genetic tests are currently in use, and more are being developed.
Since genetic testing may open up ethical or psychological problems, genetic testing is often accompanied by genetic counseling.
Contents
More on genetic testing
from: nih.gov
What is genetic testing?
Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders. 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. Several hundred genetic tests are currently in use, and more are being developed.
Genetic testing is voluntary. Because testing has both benefits and limitations, the decision about whether to be tested is a personal and complex one. A genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.
What are the types of genetic tests?
Genetic testing can provide information about a person’s genes and chromosomes. Available types of testing include:
Newborn screening
Diagnostic testing
Carrier testing
Prenatal testing
Preimplantation testing
Predictive and presymptomatic testing
Forensic testing
How is genetic testing done?
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 consultation.
Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek. The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorder. The laboratory reports the test results in writing to a person’s doctor or genetic counselor.
Newborn screening tests are done on a small blood sample, which is taken by pricking the baby’s heel. Unlike other types of genetic testing, a parent will usually only receive the result if it is positive. If the test result is positive, additional testing is needed to determine whether the baby has a genetic disorder.
Before a person has a genetic test, it is important that he or she understands the testing procedure, the benefits and limitations of the test, and the possible consequences of the test results. The process of educating a person about the test and obtaining permission is called informed consent.
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. Healthcare providers order the appropriate test from a laboratory, collect and send the samples, and interpret the test results. Direct-to-consumer genetic testing refers to genetic tests that are marketed directly to consumers via television, print advertisements, or the Internet. This form of testing, which is also known as at-home genetic testing, provides access to a person’s genetic information without necessarily involving a doctor or insurance company in the process.
If a consumer chooses to purchase a genetic test directly, the test kit is mailed to the consumer instead of being ordered through a doctor’s office. The test typically involves collecting a DNA sample at home, often by swabbing the inside of the cheek, and mailing the sample back to the laboratory. In some cases, the person must visit a health clinic to have blood drawn. Consumers are notified of their results by mail or over the telephone, or the results are posted online. In some cases, a genetic counselor or other healthcare provider is available to explain the results and answer questions. The price for this type of at-home genetic testing ranges from several hundred dollars to more than a thousand dollars.
The growing market for direct-to-consumer genetic testing may promote awareness of genetic diseases, allow consumers to take a more proactive role in their health care, and offer a means for people to learn about their ancestral origins. At-home genetic tests, however, have significant risks and limitations. Consumers are vulnerable to being misled by the results of unproven or invalid tests. Without guidance from a healthcare provider, they may make important decisions about treatment or prevention based on inaccurate, incomplete, or misunderstood information about their health. Consumers may also experience an invasion of genetic privacy if testing companies use their genetic information in an unauthorized way.
Genetic testing provides only one piece of information about a person’s health—other genetic and environmental factors, lifestyle choices, and family medical history also affect a person’s risk of developing many disorders. These factors are discussed during a consultation with a doctor or genetic counselor, but in many cases are not addressed by at-home genetic tests. More research is needed to fully understand the benefits and limitations of direct-to-consumer genetic testing.
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. Therefore, it is important for patients and their families to ask questions about the potential meaning of genetic test results both before and after the test is performed. When interpreting test results, healthcare professionals consider a person’s medical history, family history, and the type of genetic test that was done.
A positive test result means that the laboratory found a change in a particular gene, chromosome, or protein of interest. Depending on the purpose of the test, this result may confirm a diagnosis, indicate that a person is a carrier of a particular genetic mutation, identify an increased risk of developing a disease (such as cancer) in the future, or suggest a need for further testing. Because family members have some genetic material in common, a positive test result may also have implications for certain blood relatives of the person undergoing testing. It is important to note that a positive result of a predictive or presymptomatic genetic test usually cannot establish the exact risk of developing a disorder. Also, health professionals typically cannot use a positive test result to predict the course or severity of a condition.
A negative test result means that the laboratory did not find a change in the gene, chromosome, or protein under consideration. This result can indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic mutation, or does not have an increased risk of developing a certain disease. It is possible, however, that the test missed a disease-causing genetic alteration because many tests cannot detect all genetic changes that can cause a particular disorder. Further testing may be required to confirm a negative result.
In some cases, a negative result might not give any useful information. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. Uninformative test results sometimes occur because everyone has common, natural variations in their DNA, called polymorphisms, that do not affect health. If a genetic test finds a change in DNA that has not been associated with a disorder in other people, it can be difficult to tell whether it is a natural polymorphism or a disease-causing mutation. An uninformative result cannot confirm or rule out a specific diagnosis, and it cannot indicate whether a person has an increased risk of developing a disorder. In some cases, testing other affected and unaffected family members can help clarify this type of result.
What is the cost of genetic testing, and how long does it take to get the results?
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 cost increases if more than one test is necessary or if multiple family members must be tested to obtain a meaningful result. For newborn screening, costs vary by state. Some states cover part of the total cost, but most charge a fee of $15 to $60 per infant.
From the date that a sample is taken, it may take a few weeks to several months to receive the test results. Results for prenatal testing are usually available more quickly because time is an important consideration in making decisions about a pregnancy. The doctor or genetic counselor who orders a particular test can provide specific information about the cost and time frame associated with that test.
Will health insurance cover the costs of genetic testing?
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 covered, however. A person interested in submitting the costs of testing may wish to contact his or her insurance company beforehand to ask about coverage.
Some people may choose not to use their insurance to pay for testing because the results of a genetic test can affect a person’s health insurance coverage. Instead, they may opt to pay out-of-pocket for the test. People considering genetic testing may want to find out more about their state’s privacy protection laws before they ask their insurance company to cover the costs. (Refer to What is genetic discrimination? for more information.)
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. For example, a negative result can eliminate the need for unnecessary checkups and screening tests in some cases. 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.
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). The procedures used for prenatal testing carry a small but real risk of losing the pregnancy (miscarriage) because they require a sample of amniotic fluid or tissue from around the fetus.
Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. People may feel angry, depressed, anxious, or guilty about their results. 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. (Refer to What is genetic discrimination? for additional information.)
Genetic testing can provide only limited information about an inherited condition. The test often can’t determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time. Another major limitation is the lack of treatment strategies for many genetic disorders once they are diagnosed.
A genetics professional can explain in detail the benefits, risks, and limitations of a particular test. It is important that any person who is considering genetic testing understand and weigh these factors before making a decision.
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. People who undergo genetic testing may be at risk for genetic discrimination.
The results of a genetic test are normally included in a person’s medical records. When a person applies for life, disability, or health insurance, the insurance company may ask to look at these records before making a decision about coverage. An employer may also have the right to look at an employee’s medical records. As a result, genetic test results could affect a person’s insurance coverage or employment. People making decisions about genetic testing should be aware that when test results are placed in their medical records, the results might not be kept private.
Fear of discrimination is a common concern among people considering genetic testing. Several laws at the federal and state levels help protect people against genetic discrimination; however, genetic testing is a fast-growing field and these laws don’t cover every situation.
How does genetic testing in a research setting differ from clinical genetic testing?
The main differences between clinical genetic testing and research testing are the purpose of the test and who receives the results. The goals of research testing include finding unknown genes, learning how genes work, and advancing our understanding of genetic conditions. The results of testing done as part of a research study are usually not available to patients or their healthcare providers. Clinical testing, on the other hand, is done to find out about an inherited disorder in an individual patient or family. People receive the results of a clinical test and can use them to help them make decisions about medical care or reproductive issues.
It is important for people considering genetic testing to know whether the test is available on a clinical or research basis. Clinical and research testing both involve a process of informed consent in which patients learn about the testing procedure, the risks and benefits of the test, and the potential consequences of testing.
Duty of candour?
Shouldn't there be a legal requirement for all relevant family health information to be handed on when there is an adoption and updated throughout life?
Genetic testing (and other forms of diagnostic testing) is a lot more effective if you know what to test for
Better still do away with all secrecy in adoption and any other kind of substitute parenting
I've been able to find out from actually meeting members of my natural family that there are several instances of type 2 diabetes, I know from being able to obtain death certificates (which show cause of death in the UK) that there have been instances of various types of heart disease including one brother who died at 32 from coronary thrombosis. I wouldn't have been able to obtain death certificates if I had not known those people were ever alive in the first place, if I'd not known the names of my parents and grandparents how could I have found out what they died of? Likewise my relatives now know to keep a look out for autoimmune disease because I have Crohn's a condition that is often misdiagnosed in young adults as dietary or endocrine disorder
I've been able to adjust my lifestyle to account for the health risks that I know about without the need for expensive genetic testing and been able to foreworn my GP what to keep an eye out for
It's the secrecy in adoption that is fatal to so many who've adopted, there really should be a statutory duty of candour re health issues in adoption
Yes where there's a lack of of family medical history we need state funded genetic testing but first and foremost we need openness, secrecy kills
Robin
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Without the help of extended family members
In my case, my health issues were all experienced by myself as "surprises". Having a lumptectomy on my left breast within a week of discovery in my early thirties was not a nice sort of life-event a young healthy breast feeding mother of two should expect, when she's told both natural parents were "healthy".
I don't know if I have siblings.
I don't know if either parent is alive, they live in another country. What I do know about my story has been lie after lie.
An adoptee should not have to go to the lengths you did, Robin, to get bits and pieces of genetic information out, so you can get answers for your medical bills.
Maybe Open Adoption laws are different, as many hospitals in America are now doing infant genetic screening for certain diseases, but there are huge numbers of adult adoptees in this world living with illnesses, not knowing if they are the result of lifestyle or genetics.
A weapon against secrecy
In all honesty, I've never given medical issues that much attention. Being adopted within my family it was not difficult to get information about my history, although the validity of that information is of course debatable.
For adoptees who have no clue about their heritage I can understand this to be a serious issue. Genetic screening can of course help out here, but where to start? Genetic screening as I understand it is most often used to check if a certain genetic disease that are known to run in the family. If I am informed correctly there are some 900 tests available at the moment. For non-adoptees genetic testing would mean doing one or maybe a few of those tests, but for adoptees who have no clue what runs in the family it would require running all 900 tests. The cost of each test ranging from $200 to $3000, running all tests would cost at least a six figure amount. That no adoptee, except for the most wealthy can afford. Claiming the right for all adoptees to have comprehensive screening is fair and could serve as a very powerful means to make an end to the secrecy involved in adoption.
Gimmics that sell false hope in finding our roots
DNA Kits: Secrets of Your Past or Scientific Scam?
By Meredith F. Small, LiveScience's Human Nature Columnist
posted: 07 December 2007 08:05 am ET
http://www.livescience.com/history/071207-hn-dna-kits.html
One of the by-products of human consciousness is self-consciousness, that is, knowing deeply that you are alive.
Part of self-consciousness is also wondering where we came from; it's clearly human nature to seek one's roots.
For some people, that task is relatively easy because there are oral legends or written words that go back at least several generations (assuming family history is passed down accurately). But for most people, the path backwards is rocky, cluttered with confusing detour signs, or simply blank.
For Americans, citizens of the quintessential melting pot, the quest for identity often propels older people (it's interesting that we often search for our dead relatives while looking death square in the face) to the lists of immigrants into Ellis Island or other ports of entry into the United States and to the repository of genealogy in Salt Lake City.
It also leads unwary seekers of the past right into the hands of scam artists who claim they can trace anyone's DNA back to its source.
Anyone with a spare $100 to $900 can buy a "DNA ancestry kit." Self-collection of DNA requires only a quick swab of the inside of the mouth to gather cheek cells. Mail that smear back and the company will then compare your DNA to various other samples.
But claims that this analysis will tell you much about where you came from are downright fraudulent, anthropologist Deborah Bolnick of the University of Texas at Austin and 14 co-authors recently reported.
Instead of tracing our genetic past, what we get is a scientific scam.
"It sure looks like science," says anthropologist Jonathan Marks of the University of North Carolina, Charlotte, one of the authors of the study. "Well, it is science. It’s done by scientists, and it’s done on DNA samples. And it produces real data."
But, Marks points out, these companies are preying on the public because they simply don’t have enough comparative information to pinpoint a gene on a world map. They might match your DNA to some group on some continent, but what they don’t tell you is that you would probably also match the group next door if only they had some of those samples as well.
More insidious, these companies pretend to trace your unique ancestry through mitochondrial DNA, but that’s simply not possible. A few hundred years, a few generations, and every person's history is a genetic mishmash. One little gene isn't going to inform anybody about anything.
As Marks puts it, "That’s the beauty of this scam. The companies aren’t scamming you. They’re not giving you fraudulent information. They are giving you data, real data, and allowing you to scam yourself."
Humans have, in fact, turned the whole world into one large genetic melting pot. We have always been a species that crossed mountains, continents and oceans; we have always loved to mate outside our ancestral group.
If you want to know who you are, look in the mirror. Written on your face is countless generations that have survived to reproduce, and the only thing you can realistically do at this point is thank them and then move forward.
Meredith F. Small is an anthropologist at Cornell University. She is also the author of "Our Babies, Ourselves; How Biology and Culture Shape the Way We Parent" (link) and "The Culture of Our Discontent; Beyond the Medical Model of Mental Illness" (link).
The cost of not knowing
Denial of critically important information is perhaps the biggest issue adoptees face, and this is an issue that comes back to haunt some in ways few can fathom until it becomes a real-life medical nightmare. Imagine being denied preventative health-care because you were denied the truth about your origins. I know I was not told the "whole truth" about my natural parent's ethnic-origins, and I sure wasn't told anything about my mother's gyncological health history. I would not have been spared some realities, but I could at least have been prepared so future decisions could have been based on fact, not fallacy.
The cost of denial goes far deeper than the simple price of genetic sceening, yet we live in a world where cost-effectiveness rules the minds of those making money.
Imagine not having any health-insurance and reading the following:
Whether an adoptee chooses to have genetic screening or not is indeed a very personal decision, however I believe the option to know truthful medical information ought to be a given, not a perk that can be denied.