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Should Patients Order Their Own Genomic Testing?
POINT co counterpoint SHOULD PATIENTS ORDER THEIR OWN GENOMIC TESTING? In an era when an individual’s risk for developing a particular disease can be explored at the molecular level, there is increasing interest, enthusiasm, and demand among consumers for access to direct-to-consumer (DTC) genomic tests. As the cost of genetic testing continues to fall, DTC tests have become increasingly available to the general public. Genomic information delivered through the Internet, outside the context of a provider-patient relationship, comes with benefits as well as risks. This month in Point Counterpoint, 2 authors examine some of the promises and pitfalls of DTC genomic testing.
Diane Siebert Diane Seibert, PhD, WHNP-BC, ANP-BC, FAANP, FAAN, is a professor and interim associate dean for academic affairs in the Daniel K. Inouye Graduate School of Nursing at the Uniformed Services University of Health Sciences in Bethesda, MD. A researcher with a focus on genetics, she also has a clinical practice at the Walter Reed National Military Medical Center.
YES
D
TC genomic testing offers advantages. Testing before symptoms develop could identify people at increased risk many decades before the first symptom appears. If symptoms are present, testing might help to clarify the diagnosis and guide treatment choices. The more data we have about ourselves, the healthier we will be. Important lifestyle changes, such as improving diet and exercising, can be made based on our genetic susceptibilities. This knowledge may encourage people to take a more proactive role in their health care, leading to better individual health decisions and preventive strategies, ultimately decreasing health care costs. From an ethical perspective, individuals exercise autonomy when choosing to explore their genetic inheritance by opting for DTC genomic testing. Patient empowerment is a powerful tool, and because consumers then have the option of making better informed health choices, they have more control and therefore are more satisfied or
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The Journal for Nurse Practitioners - JNP
empowered when they have information about their personal genetic profile. The price of genetic testing has plummeted in the past decade, bringing genetic testing technology within reach for many people. Simple genetic tests for cystic fibrosis and sickle cell anemia, for example, now cost less than $200. One test combines aerobic monitoring data with DNA sequences, blood, saliva, and stool samples to create a comprehensive report that connects to an app that explains the data and provides clear, actionable recommendations based on your goals. The more an individual knows about their genomic profile, the better the potential health outcomes. DTC genomic testing can also increase the public’s awareness. Even now, many DTC companies offer detailed patient education materials on the conditions they offer in their screening profiles, and as consumers explore their data, they become more informed about many conditions, increasing awareness and knowledge of genes and the roles they play in our bodies.
Volume
-,
Issue
-, -/-
2016
point COUNTERPOINT WHAT IS YOUR VIEW ON THIS TOPIC? Point/Counterpoint offers thought-provoking topics relevant to nurse practitioners in every issue of JNP. Two authors present thoughtful but opposing viewpoints on current subjects, from scope of practice and regulations to work ethics and care practices. Your opinion on these matters is also important, so go to www.npjournal.org or scan the QR code here to register your vote for either side of each topic. Comments or suggestions for future columns should be sent to Department Editor Donald Gardenier at [email protected]
Ken Wysocki Kenneth Wysocki, PhD, FNP-BC, FAANP, is a family nurse practitioner currently employed at Matrix Medical Network in Scottsdale, AZ. He is also a researcher in genetics and genomics and completed both pre- and postdoctoral fellowships focusing on genetics. Dr. Wysocki completed his PhD at the University of Arizona and is a fellow of the American Association of Nurse Practitioners.
NO
H
ealth is determined by many factors, including genes, environment, lifestyle, and sometimes being in the right place at the right time. DTC genomic testing can be like opening Pandora’s box because genomic information is part of a larger picture. When someone orders a DTC genomic test, he or she may not have received sufficient information about risks and benefits and may be unaware that the results are not always definitive. Privacy is 1 of the biggest concerns related to DTC genomic testing. Genomic information is maintained in databases that can be compromised, leaving an opportunity for the data to be used in an unauthorized manner. There are protections from discrimination by health insurers and employers based on genomic information, but there are still loopholes in the law. Although most DTC companies claim they will seek the individual’s consent before sharing genomic data, there are no laws regulating what happens to stored genomic data under certain circumstances, such as when a DTC company goes out of business. Genes are shared among family members,
www.npjournal.org
so results may have implications for others who may not have signed consent. It is also important to remember that DTC genomic testing uses the same technology that is used in law enforcement, so information collected for health care reasons may become discoverable for legal reasons or may reveal the identities of research participants who were promised anonymity. The price of DTC genomic tests has declined, but follow-up testing to rule results in or out can be expensive and risky. There is marketplace variability as well. Many DTC companies are reputable, whereas others make false claims and use predatory practices. DTC genomic testing is in its infancy. Results are more of a statistical association than diagnosis. Genomic testing can be informative but is perhaps most beneficial when the results can be clearly interpreted.
1555-4155/16/$ see front matter © 2016 Elsevier, Inc. All rights reserved. http://dx.doi.org/10.1016/j.nurpra.2016.03.012
The Journal for Nurse Practitioners - JNP
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Diane Siebert Diane Seibert, PhD, WHNP-BC, ANP-BC, FAANP, FAAN, is a professor and interim associate dean for academic affairs in the Daniel K. Inouye Graduate School of Nursing at the Uniformed Services University of Health Sciences in Bethesda, MD. A researcher with a focus on genetics, she also has a clinical practice at the Walter Reed National Military Medical Center.
YES
D
TC genomic testing offers advantages. Testing before symptoms develop could identify people at increased risk many decades before the first symptom appears. If symptoms are present, testing might help to clarify the diagnosis and guide treatment choices. The more data we have about ourselves, the healthier we will be. Important lifestyle changes, such as improving diet and exercising, can be made based on our genetic susceptibilities. This knowledge may encourage people to take a more proactive role in their health care, leading to better individual health decisions and preventive strategies, ultimately decreasing health care costs. From an ethical perspective, individuals exercise autonomy when choosing to explore their genetic inheritance by opting for DTC genomic testing. Patient empowerment is a powerful tool, and because consumers then have the option of making better informed health choices, they have more control and therefore are more satisfied or
2
The Journal for Nurse Practitioners - JNP
empowered when they have information about their personal genetic profile. The price of genetic testing has plummeted in the past decade, bringing genetic testing technology within reach for many people. Simple genetic tests for cystic fibrosis and sickle cell anemia, for example, now cost less than $200. One test combines aerobic monitoring data with DNA sequences, blood, saliva, and stool samples to create a comprehensive report that connects to an app that explains the data and provides clear, actionable recommendations based on your goals. The more an individual knows about their genomic profile, the better the potential health outcomes. DTC genomic testing can also increase the public’s awareness. Even now, many DTC companies offer detailed patient education materials on the conditions they offer in their screening profiles, and as consumers explore their data, they become more informed about many conditions, increasing awareness and knowledge of genes and the roles they play in our bodies.
Volume
-,
Issue
-, -/-
2016
point COUNTERPOINT WHAT IS YOUR VIEW ON THIS TOPIC? Point/Counterpoint offers thought-provoking topics relevant to nurse practitioners in every issue of JNP. Two authors present thoughtful but opposing viewpoints on current subjects, from scope of practice and regulations to work ethics and care practices. Your opinion on these matters is also important, so go to www.npjournal.org or scan the QR code here to register your vote for either side of each topic. Comments or suggestions for future columns should be sent to Department Editor Donald Gardenier at [email protected]
Ken Wysocki Kenneth Wysocki, PhD, FNP-BC, FAANP, is a family nurse practitioner currently employed at Matrix Medical Network in Scottsdale, AZ. He is also a researcher in genetics and genomics and completed both pre- and postdoctoral fellowships focusing on genetics. Dr. Wysocki completed his PhD at the University of Arizona and is a fellow of the American Association of Nurse Practitioners.
NO
H
ealth is determined by many factors, including genes, environment, lifestyle, and sometimes being in the right place at the right time. DTC genomic testing can be like opening Pandora’s box because genomic information is part of a larger picture. When someone orders a DTC genomic test, he or she may not have received sufficient information about risks and benefits and may be unaware that the results are not always definitive. Privacy is 1 of the biggest concerns related to DTC genomic testing. Genomic information is maintained in databases that can be compromised, leaving an opportunity for the data to be used in an unauthorized manner. There are protections from discrimination by health insurers and employers based on genomic information, but there are still loopholes in the law. Although most DTC companies claim they will seek the individual’s consent before sharing genomic data, there are no laws regulating what happens to stored genomic data under certain circumstances, such as when a DTC company goes out of business. Genes are shared among family members,
www.npjournal.org
so results may have implications for others who may not have signed consent. It is also important to remember that DTC genomic testing uses the same technology that is used in law enforcement, so information collected for health care reasons may become discoverable for legal reasons or may reveal the identities of research participants who were promised anonymity. The price of DTC genomic tests has declined, but follow-up testing to rule results in or out can be expensive and risky. There is marketplace variability as well. Many DTC companies are reputable, whereas others make false claims and use predatory practices. DTC genomic testing is in its infancy. Results are more of a statistical association than diagnosis. Genomic testing can be informative but is perhaps most beneficial when the results can be clearly interpreted.
1555-4155/16/$ see front matter © 2016 Elsevier, Inc. All rights reserved. http://dx.doi.org/10.1016/j.nurpra.2016.03.012
The Journal for Nurse Practitioners - JNP
3