January 27, 2009

DTC genetic test III

DTC Genetic Tests and Bioethical Issues, Part III

This is the 3rd post in DTC genetic tests. You could see prior post in DTC-Part I and DTC Part II. According several authors the four the major principles of bioethics are involved and offers and interesting frame of discussion. We are going to discuss briefly those issues below the light of medical ethics.

What are the major principles of medical ethics?
The commonly accepted principles of health care ethics include:

  1. the principle of respect for autonomy,
  2. the principle of nonmaleficence,
  3. the principle of beneficence, and
  4. the principle of justice.

1. Respect for Autonomy
Definition: Autonomy literally means self-rule or government, but has come to mean the ability to make individual choices and decisions. Any notion of moral decision making assumes that rational agents are involved in making informed and voluntary decisions. In health care decisions, our respect for the autonomy of the patient would, in common parlance, mean that the patient has the capacity to act intentionally, with understanding, and without controlling influences that would mitigate against a free and voluntary act. This principle is the basis for the practice of "informed consent" in the physician/patient transaction regarding health care. Western society has a strong tradition of individual rights and freedoms. Respecting autonomy is the primary concept that gives moral significance to rights and freedoms. Respecting autonomy means giving people the freedom to make choices and decisions for themselves. One argument supporting the development and availability of DTC genetic tests is promotion of individual autonomy and a 'right to know' about personal genetic make-up. People should be free to access their own genetic information, and these tests facilitate that freedom and right. Rights do not exist in a vacuum, and they are linked to duties and responsibilities. Individuals are free to obtain access to their genetic information, but this does not necessarily mean there is a 'right' to this information with a correlative responsibility placed on a third party to ensure it happens. Alternatively, people may be free to access this information because it relates to their own bodies, health and well-being, but still not have an enforceable 'right' to it. In either situation, both rights and freedoms are not unlimited. In reality, society limits autonomy, liberty and rights when there is danger of harm or risk to individuals or groups. Respecting people's autonomy is one positive duty in health care, but it is not without limits, and it should be balanced with potential harms to the self and/or others.

2. The Principle of Nonmaleficence
Definition: Non-maleficence means to “do no harm.” Physicians must refrain from providing ineffective treatments or acting with malice toward patients. This principle, however, offers little useful guidance to physicians since many beneficial therapies also have serious risks. The pertinent ethical issue is whether the benefits outweigh the burdens. The principle of nonmaleficence requires of us that we not intentionally create a needless harm or injury to the patient, either through acts of commission or omission. In common language, we consider it negligence if one imposes a careless or unreasonable risk of harm upon another.

Providing a proper standard of care that avoids or minimizes the risk of harm is supported not only by our commonly held moral convictions, but by the laws of society as well. In a professional model of care one may be morally and legally blameworthy if one fails to meet the standards of due care. The legal criteria for determining negligence are as follows:

  1. the professional must have a duty to the affected party
  2. the professional must breach that duty
  3. the affected party must experience a harm; and
  4. the harm must be caused by the breach of duty.
This principle affirms the need for medical competence. It is clear that medical mistakes occur, however, this principle articulates a fundamental commitment on the part of health care professionals to protect their patients from harm. DTC genetic tests are still filled for inaccuracy and misunderstanding. Collecting biological samples at home might or might not maximize the reliability of results, as individuals may not follow the protocols sufficiently closely.

In addition, it would be difficult to verify to whom the sample belongs and there could be a danger that an individual would send in another person's biological sample, for example, that of a child or spouse (with or without that person's knowledge of the genetic testing that discuss previously in the home paternity testing). The laboratories themselves may or may not be certified to assure the reliability and accuracy of test results and the processes used to conduct the genetic analyses and glean results are not transparent,
making assessment of reliability and validity difficult. Standards of sample collection and their processing may vary and lead to misinformation or mal-information, which could be harmful in itself and/or if people act on it.

Total genetic markers and mutations are not available yet, these markers may be linked to diseases and conditions. Just because a technology is possible, does not necessarily mean it should be offered at all or without limits. Although the technological imperative is viewed as strong, it is not absolute. The potential, or actual, benefits of any technology should be weighed against its potential, or actual, harms and risks to individuals, communities, and the wider public.
With most predictive (or screening) tests, there is a margin of error.

The sensitivity is the ability of the test to identify correctly those who have the disease or condition. The specificity is the ability of a test to identify correctly those who do not have the disease or condition. The higher the sensitivity and specificity higher test accuracy. Curre
ntly, this information, specificity and sensitivity are not available for many DTC genetic tests. The rate of false positives and false negatives is unknown to the general public and general medical professionals. Without this information, it is not clear how reliable or valid many of these tests are.

Many of the disease associations are not established; therefore, their clinical significance and utility is unclear and debatable.
The context in which DTC genetic tests are offered and accessed is very different from clinical genetics tests. The latter involves physicians, nurses and genetic counselors who are trained in helping people think through the implications of having versus not having a particular test, with known predictive value, reliability and validity for the individual and his/her family. The decision to take a DTC test can be made alone or on a whim, with no pre-test or post-test counseling, and the results are sent to the individual to be interpreted, often without the guidance of a physician or genetic counselor. This shift in context can be considered potentially, if not actually, harmful.

One reason people might choose to access genetic tests directly is to protect
their confidentiality and privacy. They may want their genetic information to remain outside the realm of medical records and insurance companies. The reality might be different as consumers may be unaware of what could be done with their results. Some companies offering DTC genetic tests have privacy statements, but questions can be raised about third party access to private genetic information (whether de-identified or not) and use of it or genetic material in the development of further technologies. In contrast, having received DTC results, individuals may not fully realize their significance and could pass them on to an insurance company or employer, which could have harmful implications for them and their families. The potential harms of DTC genetic testing for individuals and their families are not insignificant, but should be considered in light of potential benefits.

3. The Principle of Beneficence
Definition: Beneficence is action that is done for the benefit of others.

Beneficent actions can be taken to help prevent or remove harms or
to simply improve the situation of others. The ordinary meaning of this principle is the duty of health care providers to be of a benefit to the patient, as well as to take positive steps to prevent and to remove harm from the patient. These duties are viewed as self-evident and are widely accepted as the proper goals of medicine.

These goals are applied both to individual patients, and to the good of society as a whole. For example, the good health of a particular patient is an appropriate goal of medicine, and the prevention of disease through research and the employment of vaccines is the same goal expanded to the population at large.
It is sometimes held that nonmaleficence is a constant duty, that is, one ought never to harm another individual. Whereas beneficence is a limited duty. A physician has a duty to seek the benefit of any or all of her patients, however, the physician may also choose whom to admit into his or her practice, and does not have a strict duty to benefit patients not acknowledged in the panel.

This duty becomes complex if two patients appeal for treatment at the same moment. Some criteria of urgency of need might be used, or some principle of first come first served, to decide who should be helped at the moment.
One benefit of DTC testing is that it might provide accurate results about genetic susceptibility and status regarding a specific disease or condition. True positive or true negative results would enable individuals to act on that information, e.g. making lifestyle, occupational or environmental changes, which could benefit them and aid prevention of certain diseases.

Though a true positive result may indicate a person has mutation and, therefore, is at elevated risk, it would not necessarily predict the time of onset or severity of a disease or condition.
Individuals also may seek the advice of their physician about possible preventive measures, such as stopping smoking or altering diet and exercise, on the basis of such results, which would be beneficial.

Bringing people in to see their physician is double-edged as it requires more time, but may also open communication about genetics, genetic testing, and lifestyle choices that could provide overall benefit to individuals and their families. In this way, DTC genetic tests would be a means to a potentially beneficial end.
On the other end of the spectrum, DTC tests allow freedom of access without necessarily requiring a medical or health care professional. Such tests also circumvent having these genetic results in medical records, which could be accessed by insurance companies and might mean higher (or lower) premiums.

Although the benefit of such freedom and testing may be questioned, it could be useful for people who do not fall into high risk categories and are, therefore, not eligible for more traditional clinical genetic testing services. Such tests could offer them feedback and insight into their genetic make-up, which might be beneficial. The benefits of DTC genetic testing fall mostly into the possible, rather than the probable range at present, and are minimal when weighed against the potential harms. One additional benefit would be to facilitate individual autonomy and choice.

Balancing Beneficence and Non-maleficence: One of the most common ethical dilemmas arises in the balancing of beneficence and non-maleficence. This balance is the one between the benefits and risks of treatment and plays a role in nearly every medical decision such as whether to order a particular test, medication, procedure, operation or treatment. By providing informed consent, physicians give patients the information necessary to understand the scope and nature of the potential risks and benefits in order to make a decision. Ultimately it is the patient who assigns weight to the risks and benefits. Nonetheless, the potential benefits of any intervention must outweigh the risks in order for the action to be ethical.

4. The Principle of Justice
Justice in health care is usually defined as a form of fairness, or as Aristotle once said, "giving to each that which is his due."

This implies the fair distribution of goods in society and requires that we look at the role of entitlement. The question of distributive justice also seems to hinge on the fact that some goods and services are in short supply, there is not enough to go around, thus some fair means of allocating scarce resources must be determined. It is generally held that persons who are equals should qualify for equal treatment. This category of persons is equal with respect to this one factor, their age, but the criteria chosen says nothing about need or other noteworthy factors about the persons in this category. In fact, our society uses a variety of factors as a criteria for distributive justice, including the following:

  1. to each person an equal share
  2. to each person according to need
  3. to each person according to effort
  4. to each person according to contribution
  5. to each person according to merit
  6. to each person according to free-market exchanges
Some authors claim that many of the inequalities we experience are a result of a "natural lottery" or a "social lottery" for which the affected individual is not to blame, therefore, society ought to help even the playing field by providing resources to help overcome the disadvantaged situation.

One of the most controversial issues in modern health care is the question pertaining to "who has the right to health care?" Or, stated another way, perhaps as a society we want to be beneficent and fair and provide some decent minimum level of health care for all citizens, regardless of ability to pay.
The ethical principle of justice highlights the issues of access, equality and fairness regarding DTC genetic testing. Obtaining these tests is limited to those with computers and internet access and the knowledge/skills to use them.

People must have the financial means to order the tests. Both factors indicate DTC genetic testing is biased toward those with greater financial means, and those with fewer financial resources may find it more difficult to utilize these tests. This bias may be viewed as inequitable and unfair, particularly if the tests offer potential health benefits.

More broadly, DTC genetic tests may consume scarce resources. Individuals receiving these test results may not be able to understand or interpret them. Because DTC genetic tests do not generally offer genetic counseling, consumers may turn to their own primary care physicians for advice. These physicians are already under tremendous pressure, usually having only a few minutes per patient. Understanding and interpreting genetic information is often complex and time consuming, and requires specialist training. This is time taken away from other patients and duties.

Primary care providers may want, or feel a duty, to help patients interpret such results, but might not have sufficient time or skills to do so. This places increased pressure on the physician and practice staff, may be an unfair burden on time and other resources, and may be unfair to other patients.
One might ask the broader question of whether the commercialization of genetic testing is appropriate and should be allowed. Whether the government has legal jurisdiction to regulate the sale of or advertising of DTC genetic tests, as well as the appropriateness of such regulation, has raised concern and stimulated debate. It could be argued that the free market will regulate itself, and if people do not want to purchase such tests, they are not being forced so to do. Leave the choice up to consumers. Yet, to make an informed choice, consumers need clear and accessible information about any test or product.

Furthermore, genetics' language may communicate a higher degree of certainty to the general public than it necessarily warrants. Such language in the advertising and results might lead people to think such tests are more reliable and accurate than they are at present. Given that these tests are offered and not federally regulated, how do we protect people from potentially false or misleading commercialization? Is the motive for developing and offering these tests for the good of people or commercial profit and gain or both? Protecting the public from unfair, unjust, and improper commercialization should be a priority.
Analyzing DTC genetic tests based on the principle of justice highlights an inequitable and unfair bias toward people with the means to access and purchase them, potential unfair burden on scarce resources, and concerns around commercialization of such testing.


The door is still open to discuss. I can said that I really like the idea of DTC genetic test but we need to amplify our scope of knowledge in this field. I think is not time yet to introduce some genetic tests in this market, we need to wait to figure out deeply our individual genome. Open mind and critical thinking is the best way to afford all this new life.

Additional Reading:
Articles in internationally reviewed journals
Pray, L. DTC Genetic testing: 23andme, DNA Direct and Genelex. Nature Education 1(1), (2008)
Tom Beauchamp and James Childress, Principles of Biomedical Ethics (4th edition) (New York: Oxford University Press, 1994).

Hudson, K., et al. ASHG statement on direct-to-consumer genetic testing in the United States. American Journal of Human Genetics 81, 635–637 (2007)Katsanis, S. H., Javitt, G., & Hudson, K. A case study of personalized medicine. Science 320, 53–54 (2008)

January 22, 2009

DTC genetic tests II

Direct-to-consumer (DTC) genetic tests: is this the medicine of the future? (Part II)

I wrote that DTC
genetic testing is a type of genetic test that is accessible directly to the consumer without having to go through a health care professional. The development of genetic tests marketed and sold direct-to-consumers (DTC) via the internet raises moral concerns and debate about their appropriateness and ethical and clinical significance. These tests are offered for a wide range of diseases and conditions, and the mutations have variability in penetrance and associated risk. A number of these tests lack data on their accuracy and reliability, making interpretation of results difficult. DTC genetic testing is undertaken outside the context of the physician-patient relationship and may lack appropriate individual and family genetic counseling, leaving the consumer vulnerable to potential harms, such as misinterpretation of results, including false positive or false reassurance, with limited or no benefits. I tried to organize the DTC test in 5 main groups:

1. Genetic risk disease test
2. Personal Genome decoded
3. Ancestry assessment
4. Home paternity testing
5. Miscellaneous

In a prior post (DTC genetic tests, Part I) I talked about some of the companies that offers products in the two first groups. Let’s continue with this theme analyzing the remains groups.

Ancestry assessment

One important group is the companies that offer Ancestry DNA tests and genealogical studies. Well, they don’t really give the test only kits to get the samples. The testing process offered by these companies often includes taking a cheek swab and returning the testing kit to the company. This is a good practice. Limitations: the information that they use in their analysis is still incomplete due to an insufficient data in their own databases and there is no clear connection between DNA and racial/ethnic identity. But it’s still a very interesting idea. The ancestry results included in their complete scan are a genetic atlas, an assessment of ancestral origins, the male lineage Y-Chromosome groups and the female lineage with mito-groups of Mitochondrial DNA. At least two dozen companies market genetic ancestry tests, which typically cost between $100 and $900, according to the scientists. As public interest has grown, nearly half a million people have had their DNA analyzed for ancestral studies.

Some examples of these companies are DNA Ancestry that
promote discover genetic genealogy and ancient ancestry with a DNA cheek-swab test, find leads based on DNA testing, surnames, geography and haplogroups, expand the consumer family tree, find potential genetic cousins, see maps and make connections, teach about the science, lab work and value of your genes in tracing your personal family history, they explain and help you choose a mitochondrial (mtDNA) or Y-chromosome lineage test in a few easy steps; and The Sorenson Molecular Genealogy Foundation is a non-profit organization dedicated to building the world's foremost collection of DNA and corresponding genealogical information. They invite to consumer to add their DNA sample and four-generation genealogy to the 90,000 records in the Sorenson Database to build the genetic family tree.

Now we need to discuss widely the real limitations of Ancestry tests even if I like these stuffs!

Home Paternity Tests

In my experience the DTC tests in paternity or related studies is a lethal weapon for a wide group of consumers. The reasons to choose this kind of test are many. Sometimes to confirm a suspect situation, sometimes to close a familiar problem but generally the parents do this test with no knowledge of the other side and mainly the children are the affected. There is no excuse. Bioethical implications involve mainly the Informed Consent of the actors and in a second view all the four principles from bioethics -non-maleficence, beneficence, respect for autonomy and justice- that I cited previously.
The American College of Medical Geneticists recommends that any genetic testing should be provided to the public only through an "appropriately qualified health care professional", who will order and interpret the test. The Human Genetics Commission in the United Kingdom recommends that genetic testing be accessed primarily through health care services and professionals. The context emphasized is one where a health care professional, physician, or genetic counselor provides guidance to a particular patient about what is, or is not, in his/her best interests.

The motivation for these recommendations is to protect patients, ensure a patient is properly informed about a genetic test and its significance (or lack of), and provide appropriate information and guidance to the patient about actions to take or avoid in light of results. Both professional bodies highlighted the complex and sensitive nature of genetic information, the potential difficulties in understanding and interpreting the results, the potential harms associated with this information, and the need for caution and guidance of health care professionals.

There are two ways to conduct paternity testing. They are both 99.99% accurate. The difference is in whether the testing process is legally documented, so that results can be used in court for legal purposes. Home paternity testing or self-collection testing, is a simple and easy way to determine a father-child relationship in the privacy of consumer own home. They use a simple cheek swab kit to collect your own DNA samples from the child, father-in-question, and mother. Then, it mail the samples to the lab at your convenience. Your results are delivered online, in a password -protected account or by post.

Home paternity tests use the same laboratory process as legal paternity tests, but the results are for personal use only. Legal paternity testing, also called chain-of-custody testing, is required if the customer need to prove paternity for legal reasons — such as child support, custody or immigration. For this testing, a company representative collects the DNA samples from you and legally documents each step of the paternity testing process.


Of all the TC genetic tests currently available to the public, early gender DNA tests are among the most controversial. The test allows pregnant women to submit finger prick blood samples which the lab screens for the presence of Y-chromosomal DNA from the fetus; Y-chromosomal DNA positive indicates a boy, negative indicates a girl. The Pink or Blue Gender Test from Consumer Genetics is based on several large scale studies that have scientifically proven the ability to determine gender by detecting Y-chromosomal DNA of fetal origin in a large sample of a mother’s blood (10 ml). The accuracy of this method in a clinical setting has been shown to be between 97.8 to 100% within a population of 1,837 pregnant women.

The Pink or Blue test uses the same molecular technique as in the studies (Polymerase Chain Reaction) along with a proprietary method of purifying and amplifying the baby’s Y chromosomal DNA within a much smaller sample of the mother’s blood (usually 60-120 microliters). The company looks for data from the DNA test that shows the baby is a boy. If this data does not show this, then this suggests that the baby is a girl. There are times when the data is not clearly one or the other - imagine a few data points that are on either side of a line. In this case, we report the test as inconclusive. Due to this complexity, they regularly run at least 2 tests for each sample to increase the probability of a conclusive result. If all tests are inconclusive then they ask the customer for a new sample.

Others interesting test are the products for the lifestyle category include like CaffeineGEN™ and WineGEN™, from Consumer Genetics too. These Lifestyle products assist to consumer in making proactive choices to self-managing their well-being by addressing how daily health-related decisions can affect the life based on your personal genetic make-up.

This is the apperitive of the big menu that will come soon, enjoy it!

January 21, 2009

DTC genetic tests I

Direct-to-consumer (DTC) genetic tests: is this the medicine of the future? (Part I)

New year new millennium and new technologies. What did you imagine for your future? The Genetics is in front of our door and we don’t have all the responses to approach this vertiginous advance. Direct-to-Consumer (DTC) genetic testing is a type of genetic test that is accessible directly to the consumer without having to go through a health care professional. Usually, to attain a genetic test, health care professionals acquire the Informed Consent and order the desired test. DTC genetic tests, however, allow consumers to bypass this process and order one themselves.

That is the question: are you ready to be your own doctor?

There are a variety of DTC tests, ranging from testing for breast cancer alleles to mutations linked to cystic fibrosis. Benefits of DTC testing are the accessibility of tests to consumers, promotion of proactive healthcare and the privacy of genetic information. Possible additional risks of DTC testing are the lack of governmental regulation and the potential misinterpretation of genetic information.

What we are talking about? Well, I tried to organize this DTC in 5 mai
n groups:

1. Genetic risk disease test
2. Personal Genome decoded
3. Ancestry assessment

4. Home paternity testing
5. Miscellaneous

DTC for Genetic risk disease

These genetic tests scan of DNA mutations to calculate your individual genetic risk for a specific disease. DTC genetic tests include a spectrum of high and low penetrant genes, such as the identification of single nucleotide polymorphisms (SNPs) associated with cardiovascular disease, breast, ovarian, colon and uterine cancers, osteoporosis, detoxification defects, metabolic deficiencies, and immune system defects. Penetrance is the probability that a gene or genetic trait will be expressed. Both gene penetrance and the associated risk, which may be linked to potentially harmful or beneficial effects, vary. Such risk can sometimes be affected by environmental and lifestyle factors.

Even if a person has a genetic mutation associated with a particular disease or condition, this does not necessarily predict when it will develop, if at all, or its severity. This variability and the fact that a number of the specific disease associations have not been established, makes interpretation of many DTC genetic tests difficult and their clinical utility less than clear. Actually, tests are available in two main classes: for gene
ric screening of diseases or specific diagnostic of a disease.

Having one’s complete genome sequenced is far more thorough than the scans done by companies such as 23andMe (also in Mountain View) and DeCodeMe of Iceland. These companies offer direct-to-consumer testing of a person’s DNA for between $399 and $995.

DeCODEme offers complete scan that explore your genetic risk factors and keep a vigilant eye on your prospects for prolonged health. By analyzing an unparalleled one million genetic variants, the complete scan is the most accurate, advanced and comprehensive test of its kind. The Complete Scan focuses on medical conditions that can either be improved by altering your lifestyle or to have better treatment options if caught early. They offer updates to your profile as new genetic variants are discovered. The conditions we cover are categorized into these main groups: cancers, blood diseases, bones, joints and muscles, brain, nerves and vision diseases, lungs and breathing problems, heart and circulation, digestive and metabolic system diseases, skin, hair and nails.

23andMe company offers scan about conditions and traits for which there are genetic ass
ociations that have a substantial influence on a person's chances of developing the disease or having the trait like age-related macular degeneration , alcohol flush reaction, bitter taste perception, Bloom's Syndrome, Celiac Disease, Crohn's Disease, Cystic Fibrosis, earwax type, Eye Color, G6PD deficiency, Glycogen Storage disease Type 1a, Hemochromatosis, Lactose intolerance, Malaria Resistance, muscle performance, Non-ABO Blood Groups, Norwalk virus resistance, Parkinson's Disease, prostate cancer, Psoriasis, resistance to HIV/AIDS, Rheumatoid Arthritis, Sickle Cell Anemia & Malaria Resistance, Type 1 Diabetes, Type 2 Diabetes and venous thromboembolism.

DNA Direct now offers Colon cancer screening essay (ColoSure™) and alpha-1 antitrypsin deficiency essay (AT-1), in home that includes a personalized report, a letter for your doctor, and toll-free support by $330.00.

ATLAS Sports Genetics
is offering a test for ACTN3, otherwise known as the speed gene. They charge $149 for the Atlas First. For $249, you get the Atlas Plus kit. It tells you how high your kid jumps. The ACTN3 test is the preeminent example of a novelty genetic test. It tells you nothing useful. I mean, if they had a genetic test that ind
icated something useful about athletic ability that would be one thing. The ACTN3 test gives something of an indication about whether your muscles are more suited for sprinting or endurance.

Navigenics scans your DNA for genetic risk markers associated with both common and uncommon health conditions. They offer a membership to Navigenics Health Compass genetic testing service that include an analysis of your genetic predisposition for a variety of common health conditions, and the information, support and guidance to know what steps you can take to prevent, detect or diagnose them early, a scan of your whole genome, carried out by a government-certified laboratory, that captures data on 1.8 million of your genetic risk markers. The genetic testing service is $2,500 for all the features above, including the first year's subscription, with an ongoing subscription rate of $250 per year for continuous service.

What do you think? It’s very impressive, is it?

We need to understand the truly important of these technologies, what is the real benefit for a common individual? Can we apply widely this tests? It Still so much wool to be cut!

Personal Genome decoded

Gene-testing companies will sell you a near-complete personal view of your own DNA for somewhere between $100,000 and $350,000. A year ago it cost $1 million. Five years ago, the cost of the first complete human genome was $2.7 billion. Some of these companies are:
Knome, Massachusetts-based, offer Knome's Complete Genome Sequencing and Analysis Service, the most comprehensive genome analysis available on the market today. Knome, currently offers a full genomic sequencing for $350,000. They analyze over 1,500 genes and over 400 genetic conditions too. Additionally, they conduct carrier screening for rare genetic disorders and generate a pharmaco-genomic profile to determine how your individual genetic make-up might influence your response to specific therapeutic agents.

Complete Genomics based in Mountain View, California—says that, come next spring, it will be able to tease out virtually every nucleotide—the A’s, C’s, T’s and G’s that make up
DNA—inside you or me for a mere $5,000. This company is now building the world’s largest commercial human-genome-sequencing center. It expects to sequence 200 genomes per day by the end of 2010.

They remain important aspects to discuss of DTC like the regulatory issues, intellectual property considerations, interaction between biotechnology, molecular diagnostic, and pharmaceutical markets, the role of physicians in helping patients interpret results from direct-to-consumer (DTC) genetic tests, effect of DTC market on molecular diagnostic laboratories, patient and consumer security, public relations and business strategies to optimize public perceptions of DTC genetic testing.

That these genetic tests are offered directly to consumers, outside the parameters of the medical or clinical genetics context, raises ethical concerns. Four principles from bioethics-non-maleficence, beneficence, respect for autonomy and justice-offer a way of framing and critically examining the ethical issues.

More about this...soon!

January 6, 2009

Mestizaje: a few basic definitions

To ethnics and mixture in Ecuador is to speak of something which is commonplace and which we come across on a day-to-day basis.

Understanding this process is complex, since it covers social, political and biological aspects, including
genetics. We will discuss the genetic diversity of Ecuadorians and a few implications on current society on the beginning of the new millennium.

Ethnic Admixt “mestizaje ”= mixed races) is the biological and cultural coming together of different ethnic
groups, in which these crossbreeding together, giving rise to new ones. This term is frequently used to describe the historic process which came about in Latin America (currently called in USA Hispano-America or Ibero-America in Spain) and which led to its current ethnic and cultural state. However, it can also refer to other peoples who have passed through this process of the coming together of various ethnic groups, races or cultures, each case in a different context and measure. This process has been defined as transculturation, which has defined the Latin American identity. The process of admixture in Latin America came about with the arrival of Europeans to the continent, followed by African slaves who lived amongst them. In this coming together of cultures, three types of crossbreeding came about:

Mestizos: mix of Native Americans (indigenous) and European; Mulatos: mix of African and European; Zambos: mix of African with Native Americans (indigenous).

Ethnic admixture has been one of the fundamental issues on the American subcontinents, in particular in Latin America. This characteristic merging of cultures has been used over the last two decades to explain the phenomenon of plurality in Latin America. Moreover, this same ideology has given strength to the theory that behind the perception of society as a product of admixture there is a hidden phenomenon of exclusion. In this work, the term "racism" is understood in its most wide ranging sense of "racial prejudice". This final point can be seen in the fact that recent studies tend to point to the need to reform the law in order to deal with an inexistent or ignored reality: the plurality of society.

The idea of admixed races, according to some authors, has been used by different governments to hide evidence of discrimination on the continent. Through the discourse of equality on the continent, the perception that we all belong to a single "Mestizo" group which has the same ancestors helps to reinforce the image that racism cannot exist since different races do not exist. Ethnic admixture is not the result of a need, but rather responds to the historic structures of peoples, their geography and even their climate. This is why different regions within a single country may present different levels and types of admixtures. The Latin American example is notable, since it exemplifies an ethnic mix spread through large part of the territory.

Ethnic, the term "ethnic" is occasionally used wrongly as a euphemism for a race, or as a synonym for minority group. The difference between these terms can be found in that the term ethnic includes cultural factors (nationality, tribal affiliation, religion, faith, language and traditions) and biological factors of an specific human group (this includes genotype aspects), whilst race alludes specifically to the distinctive phenotype and morphological factors of these human groups (skin color, physique, stature, facial characteristics, etc) developed in their process of adaptation to a specific geographical area and ecosystem (climate, altitude, flora, fauna, etc) over several generations. Thus, the word "race" is only a concept which has been associated to that of ethnic. Historically the term "ethnic" means "gentile", from the Greek adjective ethnikos. The adjective derives from the noun ethnos, which means foreign people or nation. The noun ceased to be related to "pagan" at the beginning of the 18th century. The modern sense of the word began in the mid-20th century.

Language has been used as the first classification factor of ethnic groups, although this tool has not been exempt from political manipulation and error. We should emphasize that there is a large number of multi-ethnic languages, whilst specific ethnics are multilingual.

Mestizo (from the vulgar Latin mixticius, from the Latin mixtus, participle of miscere, "mix") is the term used to designate individuals whose origin is composed of two different ethnics or cultures. However, the term "race" is being used in line with the suppositions of classic anthropology. A more current conception is to consider Mestizos as people whose ancestors are members both of the Oceanic/Eurasian branches and the African branch, including special consideration to combinations of sub-branches such as Native Americans and Europeans.

Mestizo was also considered a racist term from the social structure imposed during the historic period of the Spanish colonialisation of America. The term is used mainly in America for the admixture of Caucasian and Native American, found throughout the American continent, from the Canadian prairies in the North through to Patagonia in Argentina and Chile in the south. In other regions and countries previously under Spanish, Portuguese or French colonial rule, different variants of the term could also be used to designate people of other racial admixes in which one is an indigenous group and the other a European colonial origin. In the Philippines the term Mestizo is a generic reference which designates all individuals of admixed ancestry, of indigenous Philippine group and any foreign lineage (Spanish and Mexican).

Amerindian is an ambiguous term which has been given to the descendants of any of the native peoples of America (commonly excepting Eskimos, whose ethnic origin is different) in order to distinguish them from the later immigrants (Europeans, Africans, etc), along with Mestizos and Creoles and all these ethnics. The terms American Indian or simply Indian are also used. As with "Amerindian", the use of these terms is ambiguous, referring to the word Indian. The term Amerind or Indo-American is not ambiguous, when referring to the children of Hindu parents born in America. The term Afro-American is used in the same manner.

Indigenous is a term which, in the widest sense, is applied to everything regarding a population which originates from the territory it inhabits and which predates other populations, and whose presence is sufficiently prolonged and stable as to be considered native. The equivalent term native is more frequently used in the same sense, such as in expressions like "native language". It is also common to talk of Originary peoples. In the strictest sense, it is most common to apply the name Indigenous to the ethnics which preserve traditional non-European cultures. Within this scope, Indigenous refers to the human groups which present characteristics such as: belong to organizational traditions prior to the appearance of the modern state, belong to cultures which survived the planetary expansion of European civilization.

The Indigenous peoples frequently constitute a minority (although in some specific cases they are a majority) within national states of European nature, organized in line with cultural, religious, political, economic, racial, etc, norms typical of a mainly Europeanized environment. In this manner, in the strictest sense using the term "indigenous" refers to a pre-European remnant which represents in itself the antithesis of European culture. Following this use, it is not uncommon to speak of indigenous peoples in different parts of the world. In an even stricter sense, the term Indigenous is usually applied to indigenous Native Americans, also known as Amerindians, Native Indians, original peoples or first nations.

January 2, 2009

Ecuador and diversity

An small Overview of Ecuador: a Mega-Diverse Country

Ecuador is one of the 17 mega-diverse countries of the world, in other words one of the richest in biodiversity and endemism with regards to flora and fauna. Mega-diverse country is the name given to any of the 17 countries with the highest biodiversity levels on Earth. These are mainly tropical countries, such as those in southeast Asia and Latin America. Together they count on 70% of the biodiversity of the planet, with their territories making up 10% of the surface area of the planet (Cancún Declaration, 2002). Amongst these countries, Ecuador has the smallest area with just 256,370 Km2, namely 0.17% of the terrestrial surface of the planet, and in consequence it is the country with the greatest biodiversity of the planet in comparison to its area. This is also applicable to the human ethnic diversity found inside the country.

The variety of faces, features and skin colors is probably the best expression of diversity in Ecuador. The Blacks, Native Americans Indians, whites and Mestizos that currently live in this country are, in one way or another, the result of a long, complex process of the merging of several human groups. Although there are no up-to-date statistics, approximately one of every four Ecuadorians belong to nationalities or current Native Indian peoples. The majority, in addition to one of the thirteen or more indigenous languages, speak Spanish. In line with this fact, eight of every twelve Ecuadorians are Mestizos and speak Spanish.

Ecuador is located in the North West part of South America, and has around 13 million inhabitants. It comprises three main ethnic groups, classified not by importance but by the number of inhabitants and by their own self-knowledge, namely: (a) urban populations, Mestizos (b) indigenous Native Americans, who comprise over 100 multi-ethnic and pluri-cultural groups and (c) Afro-American black populations who are descendants of slaves and who inhabit specific regions of the country, principally in the province of Esmeraldas, Imbabura and small groups spread throughout the Ecuadorian coastline. Some authors describe the current black population as a dihybrid group which is the result of the ancestral admixture between Africans and Native Americans.

Currently there is growing interest in the populational genetic studies in Latin America, particularly thanks to our rich ethnographics. This is based on the unique, new ("with hardly five centuries of crossbreeding") and relatively homogenous history of the region, particularly following the discovery of the continent. In the last five centuries, several original populations came into contact, interacted and mixed, thus producing the current ethnic admixture. These are, in chronological order, the Indigenous Native Americans, a close group deriving from Central Asia; the Europeans, mainly Spaniards and Portuguese; and the Africans, who were brought as slaves to Latin America from Equatorial Guinea.

Demographic and Genetic Perspectives

Ecuador is a small country in South America located in the western South America, bordering the Pacific Ocean at the Equator, between Colombia and Peru, at 2˚00’ South, 77˚30’ West. It has a population of 13,927,650 (July 2008 est.) inhabitants and annual population growth rate 0.935% (2008 est.), arising almost 14 million of inhabitants. It is a multi ethnic country with a stronger native culture. It is located in latitude cero and has 283,560 sq km with a density of 53.6 inhabitants per km2. A half (54%) of the population lives in urban zones, especially in the 4 bigger cities Quito, Guayaquil, Cuenca and Santo Domingo. It has 24 provinces distributed en 4 main regions: Highlands (Sierra), Coast, Amazonia and Insular region. Ecuador is a democratic republic and the official language is the Spanish. Religion: predominantly Roman Catholic (95%), but religious freedom is recognized. Spanish is the official language, indigenous languages and also spoken inside native populations specially Kichwa. In education, the years compulsory ages are between 6-14, but enforcement varies. Attendance: through 6th grade, 76% urban, 33% rural, literacy 92%. Health: Infant mortality rate: 22.1/1,000. Life expectancy: 76.81 yrs.

Immigration process

The internal migration in the past 100 years was concentrated in the Sierra. Today the population is divided almost equally between Sierra and Costa. This migration, particularly to the big cities in all regions has also increased the urban population. The Amazon region, known as the "Oriente” (East), is located east of the Sierra and although it constitutes nearly half of the Ecuadorian territory, remains sparsely populated. The East contains only 3% of the population, the majority being indigenous Amazonian always been free and not subject to the Spanish conquest. These Amazonian indigenous nationalities have maintained their traditions, culture and languages completely intact, and kept a wary distance and to the rest of the Ecuadorian population, especially the newly mestizos and white settlers arrived in the interior. The settlers are newcomers increased over the small immigration occurred during and after the 70s when the national government hosted a multinational exploitation of oil reserves in this area. In the past 25 years, Ecuador has experienced two major waves of emigration, sending 10 to15 percent of Ecuadorians overseas, mostly to Spain, the United States, Italy, Venezuela, with a small but growing number in Chile (3, 5). While the country continues to experience emigration, the number of immigrants, particularly Peruvians and Colombians, has increased in the last five years. Most Peruvians are economic migrants, and the majority of Colombians are refugees, escaping an escalation of armed conflict since 2002 and the hardships created by drug eradication programs in southern Colombia (5). The net migration rate is 7.98 migrant(s)/1,000 population (2008 est.) (1). Most of the immigrants came predominantly from the poorest of the country, especially the highly disproportionate number of indigenous people made up of emigrants leaving the country in conjunction with the people of low socioeconomic status and some white-mestizos to be affected by the economic crisis, increasing poverty and fear to join the index. Due to an economic crisis in the late 1990s, more than 600,000 Ecuadorians emigrated to the U.S. and Europe from 2000 to 2001. According to the 2000 U.S. census there were 323,000 persons who claimed Ecuadorian ancestry. Including undocumented migrants, it is unofficially estimated that there are approximately one million Ecuadorians currently residing in the U.S.