Personal genetics: testing for susceptibility

Personal genome sequencing assesses the status of all of your genes at one time, just as if the Human Genome Project were conducted specifically on you.

Personal Genetics: Testing for SusceptibilityYour personal genome

The completion of the Human Genome Project was a great advance for medical research, providing us with part of the blueprint that makes us human.

However, the DNA sequence produced by the Human Genome Project is not identical to yours; virtually every individual on the planet carries a unique set of variations in their DNA sequence, affecting their outward appearance, their behavior, and from a medical standpoint, their susceptibility to disease.

An analysis of your entire genome would not only assess genes that are implicated in disease, but could also reveal information about your physical traits, your behavior, and even your ancestry. In addition, this assessment would include portions of the genome that are not yet well understood, including genes whose function is not yet known.

As its stands today, only the information from the parts of your genome that are well understood might benefit your present health care choices.

However, as more and more people are sequenced, scientists will be provided with a larger set of data from which to learn about the poorly understood regions of the genome and their functions, including relationships to diseases. This is one potential benefit to health care consumers in the future (see Genotype and phenotype).

In some ways, widespread personal genome sequencing may blur the line between medical practice and biomedical research. (Importantly, your genome is dynamic and only part of the story. Click here to learn more.)

Genetic testing

An ever-growing list of genetic tests are available to look for known genetic mutations that are associated with specific diseases.

Genetic tests usually characterize only one gene (or just specific parts of one gene), and the availability of such genetic tests depends on the ability of scientists to link well-characterized diseases to particular genes.

For conditions with specific genetic causes, such as Huntington’s disease or cystic fibrosis, these tests have proven to be relatively straightforward. In contrast, progress has been more challenging with respect to predicting a person’s risk for complex and multifactorial diseases, such as diabetes and heart disease.

Sequencing personal genomes

The technology that made the Human Genome Project possible is plummeting in cost, and as a result, genetic analysis is increasingly available to a broader population. The first sequence of the human genome was achieved with hundreds of sequencing machines working for years. Now a single machine can sequence a full human genome in a matter of days.

(Note, the analysis takes much longer than the actual process of sequencing.) In 2016, the cost of sequencing a human genome is roughly $1,000 (US), and companies continue to compete to reduce the cost.

 Sequencing a person’s genome has already found clinical applications, particularly in the diagnosis of rare childhood conditions and informing cancer therapeutics.

Vision for the future?

Personal Genetics: Testing for Susceptibility

Source: Oxford Nanopore Technologies

To make the sequencing technology more accessible, there has also been a push to make sequencing machines smaller and more affordable.

Some companies are developing sequencing machines that are the size of a loaf of bread or even a bar of soap (see MinION photo for one example).

In the coming years, perhaps reading human genomes might become a routine tool for preventative medicine as well and might be carried out in your doctor’s office.

Personal Genetics: Testing for SusceptibilityPrecision medicine

Ultimately, the application of genomic information could enhance our ability to make informed and appropriate decisions regarding health care, including, for example, the treatment of specific diseases or predispositions and the choice of drugs and drug dosage.

At the same time, the questions it raises, and the possible unforeseen medical and social consequences, are yet to be fully explored.

This advent of “personal genetics” will bring novel challenges and extensive questions on the ethical, legal and social issues (ELSI) that we, as a society and as individuals, need to address.

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Personal Genetics: Testing for Susceptibility

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Genetic Testing for Cancer Risk

Genetic testing helps estimate your chance of developing cancer in your lifetime. It does this by searching for specific changes in your genes, chromosomes, or proteins. These changes are called mutations.

Genetic tests are available for some types of cancer. These include:

  • Breast cancer
  • Ovarian cancer
  • Colon cancer
  • Thyroid cancer
  • Prostate cancer
  • Pancreatic cancer
  • Melanoma 
  • Sarcoma
  • Kidney cancer
  • Stomach cancer

Genetic testing may help:

  • Predict your risk of a particular disease
  • Find if you have genes that may pass increased cancer risk to your children
  • Provide information to guide your health care

No genetic test can say if you will develop cancer for sure. But it can tell you if you have a higher risk than most people.

Only some people with a gene mutation will develop cancer. What does this mean? A woman may have a 45% to 65% chance of breast cancer. But she may never develop the disease. Meanwhile, a woman with a 25% chance may develop breast cancer.

Risk factors for hereditary cancer

A hereditary cancer is any cancer caused by an inherited gene mutation. An inherited gene means it is passed from parent to child within a family. The following factors suggest a possible increased risk for hereditary cancer:

Family history of cancer. Having 3 or more relatives on the same side of the family with the same or related forms of cancer.

Cancer at an early age. Having 2 or more relatives diagnosed with cancer at an early age. This factor may differ depending on the type of cancer.

Multiple cancers. When one relative develops 2 or more types of cancer.

Rare cancers. Some types of cancer, such as ovarian cancer, adrenocortical cancer, or sarcoma, are linked to inherited genetic mutations.

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Reasons to consider genetic testing for cancer

Genetic testing is a personal decision made for different reasons. It is also a complex decision best made after talking with your family, health care team, and genetic counselor.

ASCO recommends considering genetic testing in the following situations:

  • A personal or family history suggests a genetic cause of cancer.
  • A test will clearly show a specific genetic change.
  • The results will help with diagnosis or management of a condition. For example, you may take steps to lower your risk. Steps may include surgery, medication, frequent screening, or lifestyle changes.

ASCO also recommends genetic counseling before and after genetic testing. Learn more about these recommendations on genetic testing for cancer susceptibility on a separate ASCO website.

Other factors to consider

Genetic testing has limitations and emotional implications. These may include:

Depression, anxiety, or guilt. A positive test result means a gene mutation exists. This result may bring difficult emotions. Some people may think of themselves as sick, even if they never develop cancer. Negative test results may also cause difficult emotions. For example, some people may experience guilt if they do not have a gene mutation that other family members have.

Family tension. People are generally encouraged to tell family members about test results because they can be important for the health of family members. But this information could also complicate family dynamics. Learn more about sharing genetic test results with your family.

A false sense of security. A negative result means a specific genetic mutation is not present. But people with negative results may still develop cancer. A negative result only means the person’s risk is average. Each person’s risk for cancer is also affected by other factors. For example, lifestyle, environmental exposure, and medical history.

Unclear results. A gene may have a mutation not linked with cancer risk. This is called a variant of unknown significance. It means that it is unclear whether the mutation will increase risk.

Or people may have mutations that current tests cannot find. Many cancers are not yet tied to specific gene mutations. Also, some genes may interact unpredictably with other genes or environmental factors. And these interactions may cause cancer.

So it may be impossible to calculate the cancer risk.

High cost. Genetic testing can be expensive. It is particularly expensive if health insurance does not pay for it.

Discrimination and privacy concerns. Some people fear genetic discrimination from test results. Others worry about the privacy of their genetic information. The Genetic Information Nondiscrimination Act (GINA) protects against employment and health insurance discrimination. Discuss related concerns with a genetic counselor or doctor.

Questions to ask yourself about genetic testing

Before having genetic testing, learn about its risks and limitations. Identify your reasons for wanting a test. And consider how you will cope with test results.

Here are some questions to help you make a decision:

Personal genome testing: Test characteristics to clarify the discourse on ethical, legal and societal issues

As genetics technology proceeds, practices of genetic testing have become more heterogeneous: many different types of tests are finding their way to the public in different settings and for a variety of purposes.

This diversification is relevant to the discourse on ethical, legal and societal issues (ELSI) surrounding genetic testing, which must evolve to encompass these differences.

One important development is the rise of personal genome testing on the basis of genetic profiling: the testing of multiple genetic variants simultaneously for the prediction of common multifactorial diseases.

Currently, an increasing number of companies are offering personal genome tests directly to consumers and are spurring ELSI-discussions, which stand in need of clarification. This paper presents a systematic approach to the ELSI-evaluation of personal genome testing for multifactorial diseases along the lines of its test characteristics.

This paper addresses four test characteristics of personal genome testing: its being a non-targeted type of testing, its high analytical validity, low clinical validity and problematic clinical utility.

These characteristics raise their own specific ELSI, for example: non-targeted genetic profiling poses serious problems for information provision and informed consent.

Questions about the quantity and quality of the necessary information, as well as about moral responsibilities with regard to the provision of information are therefore becoming central themes within ELSI-discussions of personal genome testing.

Further, the current low level of clinical validity of genetic profiles raises questions concerning societal risks and regulatory requirements, whereas simultaneously it causes traditional ELSI-issues of clinical genetics, such as psychological and health risks, discrimination, and stigmatization, to lose part of their relevance. Also, classic notions of clinical utility are challenged by the newer notion of 'personal utility.'

Consideration of test characteristics is essential to any valuable discourse on the ELSI of personal genome testing for multifactorial diseases.

Four key characteristics of the test – targeted/non-targeted testing, analytical validity, clinical validity and clinical utility – together determine the applicability and the relevance of ELSI to specific tests.

The paper identifies and discusses four areas of interest for the ELSI-debate on personal genome testing: informational problems, risks, regulatory issues, and the notion of personal utility.

In discussions on ethical, legal and societal issues (ELSI) surrounding genetic testing, there is no longer any single satisfying definition of what constitutes 'a genetic test'.

Practices of genetic testing are becoming more and more heterogeneous, not only with regard to the setting and purpose of testing, but also with regard to the technical aspects of the tests themselves. Some of these technical differences between genetic tests are ethically significant or have implications for legal or societal issues.

Therefore, a clear understanding of the relevant test characteristics of genetic tests is a necessity for any meaningful discussion of the ELSI surrounding genetic testing.

Over the last decades, new technologies for genetic testing have been developed that differ in many respects from those used in traditional clinical genetic testing for monogenic diseases.

One important development is the advent of personal genome testing on the basis of genetic profiling for the prediction of common multifactorial diseases.

Multifactorial diseases, such as cardiovascular diseases [1], age-related macular degeneration [2], type 2 diabetes [3], clinical depression [4], and many types of cancer [5], are caused by intricate interplays of multiple genetic factors and non-genetic factors.

Through an analysis of those genetic factors, an individual's genetic susceptibility to multifactorial diseases can be determined. Personal genome testing companies are currently offering such risk prediction services directly-to-consumer, thereby raising a range of new ELSI.

With this paper, we aim to clarify the relations between the more technical characteristics of a genetic test and the ELSI with which the test is associated. We believe that a thorough understanding of the technical characteristics of personal genome tests themselves forms a necessary basis for all further ELSI-discussions in the field.

Our focus on the test characteristics implies that, in this paper, we will not be able to discuss other aspects that are relevant to ELSI-discussions, such as characteristics of the diseases tested for, or the settings in which tests are offered.

Although there are moral differences, for example, between the offering of personal genome tests by private companies and the offering of the same tests by public health care systems, or between testing for diseases for which there are treatment options available and testing for diseases for which there are no such options, these differences are not the main subject of this paper. As personal genome tests are currently offered almost exclusively in a direct-to-consumer context, we take that context as the background to our discussion.

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First, we will introduce the practice of personal genome testing.

In the second section, we will distinguish and briefly discuss the following four key test characteristics of genetic testing: from targeted to non-targeted testing, analytical validity, clinical validity and clinical utility. The third section of the paper discloses and discusses four major areas of implications of these test characteristics for the ELSI-debate.

Personal genome testing for multifactorial diseases is conducted on the basis of genetic profiling. In a genetic profile, multiple genetic variants are combined that are associated with increased or decreased risks for a particular multifactorial disease.

Presently, single nucleotide polymorphisms (SNPs) are used within genetic profiles [6]. SNPs are variations of a single nucleotide, the smallest building block of DNA. Most common SNPs that are known today convey only minor risks [7].

They are distinguished from mutations that cause monogenic diseases, which are rare but convey large risks.

Genetic Testing Fact Sheet

Genetic testing looks for specific inherited changes (variants) in a person’s genes.

Genetic variants can have harmful, beneficial, neutral (no effect), or unknown or uncertain effects on the risk of developing diseases.

Harmful variants in some genes are known to be associated with an increased risk of developing cancer. These inherited variants are thought to contribute to about 5 to 10% of all cancers.

Cancer can sometimes appear to “run in families” even if it is not caused by an inherited variant. For example, a shared environment or lifestyle, such as tobacco use, can cause similar cancers to develop among family members.

However, certain patterns that are seen in members of a family—such as the types of cancer that develop, other non-cancer conditions that are seen, and the ages at which cancer typically develops—may suggest the presence of an inherited susceptibility to cancer.

Genes involved in many of the known inherited cancer susceptibility syndromes have been identified.

Testing whether someone carries a harmful variant in one of these genes can confirm whether a condition is, indeed, the result of an inherited syndrome.

Genetic testing is also done to determine whether family members who have not (yet) developed a cancer have inherited the same variant as a family member who is known to carry a harmful (cancer susceptibility predisposing) variant.

A different type of genetic testing, called tumor DNA sequencing, is sometimes done to determine if cancer cells of people who have already gotten a cancer diagnosis have genetic changes that can be used to guide treatment. Although some of these cancer cell changes may be inherited, most occur randomly during a person’s lifetime. Genetic testing of tumor cells is addressed in the Tumor DNA Sequencing in Cancer Treatment page.

No. Even if a cancer susceptibility variant is present in a family, it does not necessarily mean that everyone who inherits the variant will develop cancer. Several factors influence whether a given person with the variant will actually develop cancer. One is the penetrance of the variant.

When not all people who carry a variant go on to develop the disease associated with that variant, it is said to have incomplete or reduced penetrance.

Hereditary cancer syndromes can also vary in their expressivity—that is, people who inherit the variant may vary in the extent to which they show signs and symptoms of the syndrome, including the development of associated cancers. Lifestyle factors and environmental risks can also influence disease expression.

More than 50 hereditary cancer syndromes have been described; see the PDQ Cancer Genetics Overview for a list of familial cancer susceptibility syndromes.

Most of these are caused by harmful variants that are inherited in an autosomal dominant fashion—that is, a single altered copy of the gene inherited from one parent is enough to increase a person’s chance of developing cancer.

For most of these syndromes, genetic tests for harmful variants are available.

Tests are also available for several inherited genetic variants that are not associated with named syndromes but have been found to increase cancer risk. Examples include inherited variants in PALB2 (associated with increased risks of breast and pancreatic cancers), CHEK2 (breast and colorectal cancers), BRIP1 (ovarian cancer), and RAD51C and RAD51D (ovarian cancer).

People who are concerned about whether their family history puts them at risk for cancer should consult with a genetic counselor.

The features of a person’s personal or family medical history that, particularly in combination, may suggest a hereditary cancer syndrome include:

  • Cancer was diagnosed at an unusually young age
  • Several different types of cancer occurred in the same person
  • Cancer in both organs in a set of paired organs, such as both kidneys or both breasts
  • Several first-degree relatives (the parents, siblings, or children of an individual) have the same type of cancer (for example, a mother, daughter, and sisters with breast cancer); family members with breast or ovarian cancer; family members with colon cancer and endometrial cancer
  • Unusual cases of a specific cancer type (for example, breast cancer in a man)
  • The presence of birth defects that are known to be associated with inherited cancer syndromes, such as certain noncancerous (benign) skin growths and skeletal abnormalities associated with neurofibromatosis type 1.
  • Being a member of a racial or ethnic group that is known to have an increased risk of having a certain inherited cancer susceptibility syndrome and having one or more of the above features as well
  • Several family members with cancer

If a person is concerned that they may have an inherited cancer susceptibility syndrome in their family, it is generally recommended that, when possible, a family member with cancer have genetic counseling and testing first, to identify with more certainty if the cancer in the family is due to an inherited genetic variant. Genetic testing is often more informative if it can begin in a family member with a previous or current cancer diagnosis than in someone who has never had cancer.

If a person in the family has already been found to have an inherited cancer susceptibility syndrome, then any family members who could have inherited the variant should consider genetic testing, even if they have not (yet) had a cancer. Knowing about their risks may help them to prevent a future cancer.

Genetic counseling is generally recommended before any genetic testing for a hereditary cancer syndrome and may also be performed after the test, especially if a positive result is found and a person needs to learn more about the hereditary cancer predisposition syndrome they have been found to have. This counseling should be performed by a trained genetic counselor or other health care professional who is experienced in cancer genetics. Genetic counseling usually covers many aspects of the testing process, including:

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