Gene Testing For Melanoma Risk Reduces Anxiety And Depression
People with a family history of the skin cancer melanoma show reductions in anxiety and depression after getting tested for a high-risk gene mutation, reports a study in the May issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics. The journal is published by Lippincott Williams & Wilkins, a part of... Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals, and institutions in medicine, nursing, allied health, pharmacy and the pharmaceutical industry.
"This study provides preliminary evidence for healthy psychological, behavioral, and cognitive adjustment after participation in genetic testing for melanoma risk," according to lead researcher Nadine A. Kasparian, Ph.D., of University of New South Wales, Australia.
Who Gets Tested, and What Are the Effects?
One hundred nineteen patients were offered testing for mutation of the CDKN2A gene, which has been linked to a very high risk of melanoma. All had a strong family history of melanoma, with at least three affected relatives. A wide range of factors including beliefs about melanoma and genetic testing and symptoms of anxiety and depression were evaluated to assess the characteristics of patients who opted for genetic testing, as well as the impact of being tested.
Over a three-year period, 25 patients decided to be tested. Of these, 75 percent were found to carry the CDKN2A mutation. The researchers had expected that patients with positive test results would have at least a short-term increase in psychological distress.
To the contrary, however, patients who found they carried the high-risk gene had a significant reduction in scores for anxiety at two weeks after testing. Depression scores were also decreased, and remained so at one-year follow-up.
Several factors affected the decision to undergo genetic testing. Patients who believed they were highly susceptible to melanoma were three times more likely to be tested. In contrast, those who believed that melanoma was more likely to be fatal, even if detected early, were about half as likely to be tested. The most frequent reasons for being tested were to aid melanoma research, to learn about melanoma risk in one's children, and to learn about steps to reduce personal risk.
Behavior Changes As Well As Reduced Anxiety
People who tested positive for the high-risk gene became more likely to undergo regular skin examinations by a physician a key part of recommendations for early melanoma detection. Other behaviors, including sunscreen use, were not significantly different for people with positive tests, compared to those who decided not to be tested. Because of the small number of patients with negative gene test results, the impact of testing in this group could not be evaluated.
The genetic factors affecting melanoma risk are complex, but are coming into sharper focus with the discovery of the CDKN2A mutation and other risk genes. Although the CDKN2A test could have important benefits for people with a family history of melanoma, it has yet to come into common clinical use. Benefits of testing could include knowing one's risk and taking preventive steps, such as sun protection and skin examination. The test could also have negative effects, especially psychological distress and "fatalistic" thinking about melanoma.
The encouraging new results suggest that genetic testing for melanoma risk decreases rather than increases anxiety even for patients who discover that they have the high-risk gene. The percentage of patients deciding to be tested is lower than for other genetic tests for disease risk, perhaps because patients question the value of being tested. Dr. Kasparian and coauthors hope their results will lead to "widespread discussion of, and patient education about, the benefits, risks, and limitations" of genetic testing for melanoma risk.
About Genetics in Medicine
Genetics in Medicine is the official peer-reviewed journal of The American College of Medical Genetics. The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals, and institutions in medicine, nursing, allied health, pharmacy and the pharmaceutical industry.
About the American College of Medical Genetics
Founded in 1991, the ACMG provides education, resources and a voice for the medical genetics profession. To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat and prevent genetic disease. Members include biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors, and other health care professionals committed to the practice of medical genetics. Genetics in Medicine, now published monthly, is the official journal of the ACMG.
About Lippincott Williams & Wilkins
Lippincott Williams & Wilkins (LWW) is a leading international publisher for healthcare professionals and students with nearly 300 periodicals and 1,500 books in more than 100 disciplines publishing under the LWW brand, as well as content-based sites and online corporate and customer services. LWW is part of Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals and institutions in medicine, nursing, allied health, pharmacy and the pharmaceutical industry.
Wolters Kluwer Health is a division of Wolters Kluwer, a leading global information services and publishing company. The company provides products and services for professionals in the health, tax, accounting, corporate, financial services, legal, and regulatory sectors. Wolters Kluwer had 2008 annual revenues of €3.4 billion ($4.9 billion), employs approximately 20,000 people worldwide, and maintains operations in over 35 countries across Europe, North America, Asia Pacific, and Latin America. Wolters Kluwer is headquartered in Amsterdam, the Netherlands. Its shares are quoted on Euronext Amsterdam (WKL) and are included in the AEX and Euronext 100 indices.
Source: Wolters Kluwer Health
"This study provides preliminary evidence for healthy psychological, behavioral, and cognitive adjustment after participation in genetic testing for melanoma risk," according to lead researcher Nadine A. Kasparian, Ph.D., of University of New South Wales, Australia.
Who Gets Tested, and What Are the Effects?
One hundred nineteen patients were offered testing for mutation of the CDKN2A gene, which has been linked to a very high risk of melanoma. All had a strong family history of melanoma, with at least three affected relatives. A wide range of factors including beliefs about melanoma and genetic testing and symptoms of anxiety and depression were evaluated to assess the characteristics of patients who opted for genetic testing, as well as the impact of being tested.
Over a three-year period, 25 patients decided to be tested. Of these, 75 percent were found to carry the CDKN2A mutation. The researchers had expected that patients with positive test results would have at least a short-term increase in psychological distress.
To the contrary, however, patients who found they carried the high-risk gene had a significant reduction in scores for anxiety at two weeks after testing. Depression scores were also decreased, and remained so at one-year follow-up.
Several factors affected the decision to undergo genetic testing. Patients who believed they were highly susceptible to melanoma were three times more likely to be tested. In contrast, those who believed that melanoma was more likely to be fatal, even if detected early, were about half as likely to be tested. The most frequent reasons for being tested were to aid melanoma research, to learn about melanoma risk in one's children, and to learn about steps to reduce personal risk.
Behavior Changes As Well As Reduced Anxiety
People who tested positive for the high-risk gene became more likely to undergo regular skin examinations by a physician a key part of recommendations for early melanoma detection. Other behaviors, including sunscreen use, were not significantly different for people with positive tests, compared to those who decided not to be tested. Because of the small number of patients with negative gene test results, the impact of testing in this group could not be evaluated.
The genetic factors affecting melanoma risk are complex, but are coming into sharper focus with the discovery of the CDKN2A mutation and other risk genes. Although the CDKN2A test could have important benefits for people with a family history of melanoma, it has yet to come into common clinical use. Benefits of testing could include knowing one's risk and taking preventive steps, such as sun protection and skin examination. The test could also have negative effects, especially psychological distress and "fatalistic" thinking about melanoma.
The encouraging new results suggest that genetic testing for melanoma risk decreases rather than increases anxiety even for patients who discover that they have the high-risk gene. The percentage of patients deciding to be tested is lower than for other genetic tests for disease risk, perhaps because patients question the value of being tested. Dr. Kasparian and coauthors hope their results will lead to "widespread discussion of, and patient education about, the benefits, risks, and limitations" of genetic testing for melanoma risk.
About Genetics in Medicine
Genetics in Medicine is the official peer-reviewed journal of The American College of Medical Genetics. The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals, and institutions in medicine, nursing, allied health, pharmacy and the pharmaceutical industry.
About the American College of Medical Genetics
Founded in 1991, the ACMG provides education, resources and a voice for the medical genetics profession. To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat and prevent genetic disease. Members include biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors, and other health care professionals committed to the practice of medical genetics. Genetics in Medicine, now published monthly, is the official journal of the ACMG.
About Lippincott Williams & Wilkins
Lippincott Williams & Wilkins (LWW) is a leading international publisher for healthcare professionals and students with nearly 300 periodicals and 1,500 books in more than 100 disciplines publishing under the LWW brand, as well as content-based sites and online corporate and customer services. LWW is part of Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals and institutions in medicine, nursing, allied health, pharmacy and the pharmaceutical industry.
Wolters Kluwer Health is a division of Wolters Kluwer, a leading global information services and publishing company. The company provides products and services for professionals in the health, tax, accounting, corporate, financial services, legal, and regulatory sectors. Wolters Kluwer had 2008 annual revenues of €3.4 billion ($4.9 billion), employs approximately 20,000 people worldwide, and maintains operations in over 35 countries across Europe, North America, Asia Pacific, and Latin America. Wolters Kluwer is headquartered in Amsterdam, the Netherlands. Its shares are quoted on Euronext Amsterdam (WKL) and are included in the AEX and Euronext 100 indices.
Source: Wolters Kluwer Health