Disadvantages Of Risk Assessment

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Risk Assessment vs Risk Management

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They may decide to receive the results at the posttest meeting, delay result notification, or less commonly, not receive the results of testing. They should be informed that their interest in receiving results will be addressed at the beginning of the posttest meeting and that time will be available to review their concerns and thoughts on notification. It is important that individuals receive this information during the pretest counseling to ensure added comfort with the decision to decline or defer result notification even when test results become available. Genetic testing for pathogenic variants in cancer susceptibility genes in children is particularly complex. While both parents [ 86 ] and providers [ 87 ] may request or recommend testing for minor children, many experts recommend that unless there is evidence that the test result will influence the medical management of the child or adolescent, genetic testing should be deferred until legal adulthood age 18 y or older because of concerns about autonomy, potential discrimination, and possible psychosocial effects.

The ASCO statement on genetic testing for cancer susceptibility maintains that the decision to consider offering childhood genetic testing should take into account not only the risk of childhood malignancy but also the evidence associated with risk reduction interventions for that disorder. Special considerations are required when genetic counseling and testing for pathogenic variants in cancer susceptibility genes are considered in children.

The first issue is the age of the child. Young children, especially those younger than 10 years, may not be involved or may have limited involvement in the decision to be tested, and some may not participate in the genetic counseling process. The majority of children in this study felt that they should have the right to make the final decision for genetic research participation, although many would seek input from their parents. Unfortunately cognitive and psychosocial development may not consistently correlate with the age of the child.

Another complicating factor includes potential risks for discrimination. Refer to the Employment and Insurance Discrimination section in the Ethical, Legal, and Social Implications section of this summary for more information. The consequences of genetic testing in children have been reviewed. Genetic testing could interfere with the development of self-concept and self-esteem. Children may also be at risk of developing feelings of survivor guilt or heightened anxiety. All children are especially susceptible to not understanding the testing, results, or implications for their health. As children mature, they begin to have decreased dependency on their parents while developing their personal identity.

This can be altered in the setting of a serious health condition or an inherited disorder. Older children are beginning to mature physically and develop intimate relationships while also changing their idealized view of their parents. All of this can be influenced by the results of a genetic test. In summary, the decision to proceed with testing in children is based on the use of the test for medical decision making for the child, the ability to interpret the test, and evidence that changes in medical decision making in childhood can positively impact health outcomes. In addition, careful attention to intrafamilial issues and potential psychosocial consequences of testing in children can enable the provider to deliver support that facilitates adaptation to the test result.

Refer to the PDQ summaries on Genetics of Breast and Gynecologic Cancers ; Genetics of Colorectal Cancer ; and Genetics of Endocrine and Neuroendocrine Neoplasias for more information about psychosocial research in children being tested for specific cancer susceptibility gene pathogenic variants. Genetic counseling and testing requires special considerations when used in vulnerable populations. In , the American Society of Human Genetics published a position statement on the ethical, legal, and psychosocial implications of genetic testing in children and adolescents as a vulnerable population. Specific to genetic testing, the International Society of Nurses in Genetics further expanded the definition of vulnerable populations to also include individuals with hearing and language deficits or conditions limiting communication for example, language differences and concerns with reliable translation , cognitive impairment, psychiatric disturbances, clients undergoing stress due to a family situation, those without financial resources, clients with acute or chronic illness and in end-of-life, and those in whom medication may impair reasoning.

Genetic counseling and testing in vulnerable populations raises special considerations. The aim of genetic counseling is to help people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease, which in part involves the meaningful exchange of factual information. Providers need to assess all patients for their ability to make an uncoerced, autonomous, informed decision prior to proceeding with genetic testing. Populations that do not seem vulnerable e. Alteration of the genetic counseling and testing process may be necessary depending on the situation, such as counseling and testing in terminally ill individuals who opt for testing for the benefit of their children, but given their impending death, results may have no impact on their own health care or may not be available before their death.

In summary, genetic counseling and testing requires that the health care provider assess all individuals for any evidence of vulnerability, and if present, be sensitive to those issues, modify genetic counseling based on the specific circumstances, and avoid causing additional harm. The complexity of genetic testing for cancer susceptibility has led experts to suggest that careful, in-depth counseling should precede any decision about the use of testing, in keeping with the accepted principles for the use of genetic testing. Qualitative and quantitative research studies indicate that families hold a variety of beliefs about the inheritance of characteristics within families; some of these beliefs are congruent with current scientific understanding, whereas others are not.

This process begins with initial discussion and continues throughout the genetic counseling process. An accurate assessment of psychosocial functioning and emotional factors related to testing motivation and potential impact and utilization is an important part of pretest counseling. People have various coping strategies for dealing with stressful circumstances such as genetic risk. Identifying these strategies and ascertaining how well or poorly they work will have implications for the support necessary during posttest counseling and will help personalize the discussion of anticipated risks and benefits of testing.

Taking a brief history of past and current psychiatric symptoms e. In such cases, further psychological assessment may be indicated. In addition, cognitive deficits in the person being counseled may significantly limit understanding of the genetic information provided and hinder the ability to give informed consent and may also require further psychological assessment. Emotional responses to cancer risk may also affect overall mood and functioning in other areas of life such as home, work, and personal health management, including cancer screening practices.

Since behavioral factors influence adherence to screening and surveillance recommendations, consideration of emotional barriers is important in helping a person choose prevention strategies and in discussing the potential utility of genetic testing. The discussion of issues such as history of depression, anxiety, and suicidal thoughts or tendencies requires sensitivity to the individual. The individual must be assured that the counseling process is a collaborative effort to minimize intrusiveness while maximizing benefits. Determining whether the individual is currently receiving treatment for major psychiatric illness is an important part of the counseling process. Consultation with a mental health professional familiar with psychological assessments may be useful to help the provider develop the strategies for these discussions.

It also may be beneficial for the individual to be given standard psychological self-report instruments that assess levels of depression, anxiety, and other psychiatric difficulties that he or she may be experiencing. This step provides objective comparisons with already established normative data. In addition to the clinical assessment of psychological functioning, several instruments for cancer patients and people at increased risk of cancer have been utilized to assess psychological status.

Psychological assessments are an ongoing part of genetic counseling. Some individuals with symptoms of increased distress, extreme avoidance of affect, or other marked psychiatric symptoms may benefit from a discussion with, or evaluation by, a mental health professional. It may be suggested to some people generally, a very small percentage of any population that testing be postponed until greater emotional stability has been established. In addition to assessing the family history of cancer, the family as a social system may also be assessed as part of the process of cancer genetic counseling.

Hereditary susceptibility to cancer may affect social interactions and attitudes toward the family. In assessing families, characteristics that may be relevant are the organization of the family including recognition of individuals who propose to speak for or motivate other family members , patterns of communication within the family, cohesion or closeness of family members or lack thereof , and the family beliefs and values that affect health behaviors.

Ethnocultural factors may also play an important role in guiding behavior in some families. The practitioner may use the above framework to guide inquiries about the relationship of the individual to 1 the affected members of the family or 2 others who are considering or deciding against the consideration of genetic counseling or testing. Inquiries about how the family shares or does not share information about health, illness, and genetic susceptibility may establish whether the individual feels under pressure from other family members or anticipates difficulty in sharing genetic information obtained from counseling or testing. Evidence from a study of persons from 38 Lynch syndrome—affected families suggested that the timing of genetic counseling and testing services may influence psychological test-related distress responses.

Specifically, family members in the same generation as the proband were more likely to experience greater test-related distress with increasingly longer lengths of time between the proband's receipt of MMR pathogenic variant results and the provision of genetic counseling and testing services to family members. However, it was unclear whether time lapses were due to a delay in the proband communicating test results or the family member choosing to delay genetic testing, despite being aware of the proband's results. More specific information about family functioning in coping with hereditary cancers can be found in the psychosocial or counseling sections of PDQ summaries on the genetics of specific types of cancer.

Specific clinical programs for risk management may be offered to persons with an increased genetic risk of cancer. These programs may differ from those offered to persons of average risk in several ways: screening may be initiated at an earlier age or involve shorter screening intervals; screening strategies not in routine use, such as screening for ovarian cancer, may be offered; and interventions to reduce cancer risk, such as risk-reducing surgery, may be offered. Current recommendations are summarized in the PDQ summaries addressing the genetics of specific cancers.

The goal of genetic education and counseling is to help individuals understand their personal risk status, recognize their options for cancer risk management, and explore their feelings regarding their personal risk status. Counseling focuses on obtaining and giving information, promoting autonomous decision making, and facilitating informed consent if genetic testing is pursued. Optimally, education and counseling about cancer risk includes providing the following information:. When a clinically valid genetic test is available, education and counseling for genetic testing typically includes the following:. If a second session is held to disclose and interpret genetic test results , education and counseling focuses on the following:. The process of counseling may require more than one visit to address medical, genetic testing, and psychosocial support issues.

Additional case-related preparation time is spent before and after the consultation sessions to obtain and review medical records, complete case documentation, seek information about differential diagnoses, identify appropriate laboratories for genetic tests, find patient support groups, research resources, and communicate with or refer to other specialists. Information about inherited risk of cancer is growing rapidly. Many of the issues discussed in a counseling session may need to be revisited as new information emerges. Individuals may be advised to check in with the health care provider periodically to determine whether new information is sufficient to merit an additional counseling session.

The obligation of health care providers to recontact individuals when new genetic testing or treatment options are available is controversial, and standards have not been established. Using probability to communicate risk may overestimate risk certainty; this is especially true when risk estimates have wide confidence intervals or when the patient has characteristics that differ greatly from that of the sample that the risk estimate was based on. For all the above reasons, conveying risk in multiple ways, both numerically and verbally, with discussion of important caveats, may be a useful strategy to increase risk comprehension.

The numerical format that facilitates the best understanding is natural frequencies because frequencies include information concerning the denominator, the reference group to which the individual may refer. In general, logarithmic scales are to be avoided. The communication of risk may be numerical or visual. Use of multiple strategies may increase comprehension and retention of cancer genetic risk information. Visual depictions of risk may be very useful when working with visual learners, but research that confirms this is lacking. Women at an increased risk of breast cancer were randomized to receive feedback via a bar graph alone or a bar graph plus a frequency diagram i. Overall results indicated that there were no differences in improved accuracy of risk perception between the two groups.

However, there was a greater improvement in accuracy of risk perception among the group of women who inaccurately perceived very high risk at baseline and received both visual aids. Studies have examined novel channels to communicate genetic cancer risk information, deliver psychosocial support, and standardize the genetic counseling process for individuals at increased risk of cancer. A prospective study evaluated the effects of a CD-ROM decisional support aid for microsatellite instability MSI tumor testing in colorectal cancer patients who met the revised Bethesda criteria but who did not meet the Amsterdam criteria. Within the study, half of the sample was randomly assigned to receive a brief description of MSI testing within the clinical encounter, and the other half was provided the CD-ROM decisional support aid in addition to the brief description.

As a result, participants felt more prepared to make a decision about the test and had increased perceived benefits of MSI testing. Other innovative strategies include educational materials and interactive computer technology. In one study, a page color communication aid using a diverse format for conveying risk, including graphic representations and verbal descriptions, was developed. They compared these women with a sample of women who received standard genetic counseling. Improvements in genetic knowledge and accuracy of risk perception were documented in those who had read the aid. There were no differences in anxiety or depression between groups.

Personalized, interactive electronic materials have also been developed to aid in genetic education and counseling. Videoconferencing is an innovative strategy to facilitate genetic counseling sessions with clients who cannot travel to specialized clinic settings. In 37 individuals in the United Kingdom, real-time video conferencing was compared with face-to-face counseling sessions; both methods were found to improve knowledge and reduce anxiety levels.

These sessions were used to convey genetic information and developmental delays. These sessions resulted in comparable decision-making confidence and session satisfaction when contrasted with in-person consultations. An Australian study compared the experiences of women who received hereditary breast and ovarian cancer HBOC genetic counseling via videoconferencing with the experiences of 89 women who received counseling face to face. Pre- and 1-month postcounseling assessments revealed no significant differences in knowledge gains, satisfaction, cancer-specific anxiety, generalized anxiety, depression, and perceived empathy of the genetic counselor.

Posttest counseling may include consideration of the implications of the test results for other family members. It has been suggested that some individuals affected by an inherited disorder agree to have genetic testing performed in order to acquire information that could be shared with family members. There is evidence that implementation of a follow-up counseling program with the proband , after test results are revealed, will significantly increase the proportion of relatives informed of their genetic risk. Follow-up counseling may include telephone conversations with the proband verifying which family members have been contacted and an offer to assist with conveying information to family members. Written materials, brochures, or personal letters may aid people in informing the appropriate relatives about genetic risk.

When a test result is negative, the posttest session may be briefer. It is important, however, to discuss genetic, medical, and psychological implications of a negative result in a family with a known pathogenic variant. Furthermore, people may feel distress even when a test is negative. Posttest results discussion of such distress may lead to referral for additional counseling in some cases.

Many individuals benefit from follow-up counseling and consultation with medical specialists after disclosure of test results. This provides an opportunity for further discussion of feelings about their risk status, options for risk management including screening and detection procedures, and implications of the test results for other family members. Cascade genetic testing refers to the process of offering genetic testing to biologic family members who are at risk of inheriting the pathogenic variant previously identified in their relative.

The process is repeated as additional pathogenic variant carriers are identified within a family. Cascade testing provides the opportunity to identify carriers of a pathogenic variant prior to cancer presentation, which allows opportunities for cancer prevention, early detection, risk reduction, and ultimately, improved health outcomes. The dissemination of genetic risk information, from the proband to at-risk relatives, is essential for the uptake of cascade testing. Most studies evaluating the uptake of cascade testing have been done in either HBOC or Lynch syndrome. First-degree relatives FDRs , females, and close family members were more likely to be informed. Emotional barriers found to influence communication of pathogenic variant results to family members include loss of contact and lack of a close emotional relationship,[ 26 ] transmission of guilt,[ 27 ] anxiety about cancer risks in relatives,[ 27 ] concerns that family members would have difficulty understanding the results,[ 28 ] emotional difficulties for the relative receiving the information,[ 26 ] and negative impacts on family relationships and dynamics.

Additionally, African Americans were less likely to undergo testing odds ratio, 0. Several strategies aimed at facilitating family dissemination and testing uptake have been studied. The Finland Lynch syndrome Registry studied reaching out to at-risk family members through letters. Establishment of the Family Information Service at Creighton University provided group counseling sessions to at-risk relatives attending an education session. Group sizes ranged from 15 to 75 individuals and sessions were conducted by genetic nurses and counselors in a location near family residences. While an uptake rate of testing was not reported, these sessions considerably reduced the one-on-one health care provider time, thus increasing the capacity of the genetic clinic.

Some groups have studied strategies to prepare probands to disseminate genetic test results to at-risk relatives. A randomized controlled study explored training on a six-step communication strategy that consisted of identifying at-risk relatives, selecting the communication method, assessing family member knowledge, sharing the result, responding to reactions, and providing genetic counseling resources. A Netherlands group explored the feasibility of a two-phased telephone motivational interviewing intervention conducted by five trained psychosocial workers.

Phase 1 determined the agenda, confirmed which family members needed to be informed with the proband, and explored current and planned result-sharing mechanisms. Phase 2 focused on sharing certain information, building motivation and self-efficacy, and brainstorming solutions to dissemination barriers. Outcomes showed that consultands found this strategy feasible and acceptable. A randomized study is under way to evaluate whether this intervention increases information dissemination.

An Australian randomized controlled trial evaluated the impact of additional telephone genetic counseling support in individuals who had been diagnosed with a genetic condition, had a child diagnosed with a genetic condition, or were found to be carriers of a pathogenic variant. No significant difference in relatives seeking genetic services was detected. One study explored free genetic testing for at-risk relatives.

Genetic testing laboratories are also exploring ways to reduce barriers to testing for family members, given that the uptake of cascade testing is low. One study performed cancer predisposition genetic testing on the basis of a diagnosis of a solid tumor cancer in patients unselected for family history or guideline-specified testing. In individuals found to harbor a pathogenic variant, all biological family members of the probands were offered no-cost testing for a 3-month period. Of the eligible families, A median of two individuals per family were tested range, 1—14 , although the total number of family members eligible for testing was not reported.

The laboratory sent emails to FDRs inviting them to undergo testing for the gene panel, which included the pathogenic variants found in their relatives. Additionally, A systematic evidence review studied the dissemination of genetic test results to the probands' family members, using contact information that was provided by probands. Results showed that the number of probands tested was higher than the number of relatives who had been notified of the probands' results. Four studies also found that relatives did not understand the genetic test results; however, when sufficiently informed by a health care provider, most opted to be tested.

Similarly, in a study with 30 probands who had a pathogenic variant, at-risk relatives were identified. Ultimately, probands gave permission for the study coordinators to contact of the at-risk relatives. When done in a clinical setting, there may be other considerations, such as billing and institutional privacy regulations, that need to be investigated before pursuing direct contact with family members.

Chatbots use artificial intelligence to create an online avatar that can speak back and forth with users, simulating real conversations on the basis of pre-established text-based dialogues. In summary, these studies document that relying on probands to notify family members of genetic risk has limitations affecting both information dissemination and the uptake of testing. No one strategy has been shown to be optimal. Ethical, legal, and social issues related to cascade testing, such as duty to warn and disclosure to at-risk relatives, are discussed in the Ethical, Legal, and Social Implications section of this summary.

Cancer risk assessment counseling is a multistep process that traditionally included an in-person pretest and posttest counseling session. In an effort to overcome access barriers, other modalities have been implemented, including group sessions, telephone counseling, and online genetic counseling using remote videoconferencing, which is often referred to as telegenetics.

A systematic review identified 13 published studies that used a randomized controlled trial design to compare pretest and posttest outcomes for in-person genetic counseling with telephone counseling. Knowledge and psychosocial outcomes e. Two studies demonstrated lower testing intention or uptake among participants who received telephone counseling. The majority of studies also found no difference in satisfaction; however, two studies demonstrated higher satisfaction among individuals who received telephone compared with those who received in-person genetic counseling. There were no differences in overall satisfaction. Exploratory analysis demonstrated minority participants reported lower perceptions of counselor support with in-person counseling compared with telephone counseling, while the opposite was observed for non-Hispanic White participants.

Additional studies are needed to confirm these findings given the small sample size. The studies were conducted prior to the adoption of multigene panel testing. In this trial, telephone disclosure was noninferior to in-person results disclosure when comparing primary psychosocial outcomes e. In primary analysis, knowledge did not meet the threshold of noninferiority without imputing missing data. Secondary outcomes related to cancer distress, depression, uncertainty, satisfaction with genetic testing, and behavioral intentions for risk management strategies were not statistically significant between groups.

Studies have also examined the use of online genetic counseling using remote videoconferencing telegenetics as an alternative to in-person genetic counseling and demonstrated increases in patient knowledge, high levels of satisfaction, and minimal negative psychosocial outcomes. Emerging approaches to delivering clinical genetic services have been examined to facilitate greater access to genetic counseling and testing. These approaches have been utilized to streamline the process by which high-risk or affected individuals are identified and referred to genetic services. These service delivery models vary in the processes by which patients receive genetic education, counseling, and testing, with genetic counseling increasingly taking place only after genetic testing has already occurred.

Several factors have contributed to the provision of genetic testing without pretest genetic counseling. These factors include: 1 expansion of genetic testing criteria, resulting in increased demand for genetic testing; 2 more indications for testing at the time of cancer diagnosis, given that the identification of a pathogenic variant may affect treatment options e. Some indications have resulted in patients being offered genetic testing by their health care providers in a nongenetics environment e. Studies have examined the impact of embedding a cancer genetic counselor on site in gynecologic oncology clinics in efforts to increase referral to and the use of genetic counseling among affected women.

Studies reported reductions in time spent with patients by the genetic counselor,[ 21 ] as well as the duration of time between referral to scheduling and completion of a genetic consultation. Universal germline genetic testing is now standard practice for patients with certain cancers, including ovarian, pancreatic, and metastatic prostate cancers. The most long-standing guidelines available for universal testing is in ovarian cancer. National guidelines in the United States [ 24 - 26 ] and internationally [ 27 , 28 ] recommend offering genetic testing to all women with ovarian cancer.

In response, some practices have implemented strategies focused on universal referral and genetic testing for ovarian cancer patients. At another academic gynecologic oncology site, several processes were implemented including provider and patient education on the rationale behind universal genetic testing, electronic health records modifications to facilitate communication with patients and recommend genetics referral, point-of-care scheduling for genetic counseling at check out, and updates to tumor board conference documentation to include whether genetic counseling was recommended.

High-risk populations, such as those of Ashkenazi Jewish decent, may be offered genetic testing with no pretest counseling or a streamlined education process that includes the provision of written or other materials. Nongenetics providers who receive training in cancer genetics are increasingly being used in triaged models to increase access to cancer genetics services. These providers may be engaged at different time points along the risk assessment, counseling, and testing process.

In one example, nurses were trained to provide basic risk assessment and offer BRCA testing to patients in an effort to increase access to genetic service providers in rural settings. A fourfold increase in the number of patients seen at the site was observed over a 2-year period. In the context of gynecologic oncology, some methodologies have streamlined processes such that oncology physicians conduct pretest education and counseling, informed consent , genetic testing, and return of negative results, while triaging the return of positive or variants of unknown significance results to genetic counselors. Streamlined services have also been deployed at obstetric and gynecologic practices without subsequent triaging and referral to genetic counselors.

In a study of five community obstetrics and gynecologic practices, clinicians were trained in hereditary cancer risk assessment and clinics modified patient screening and workflows. After 8 weeks of deploying the modified workflow, Among those who met guidelines, Overall, However, another study involving nongenetics providers in the delivery of genetics services revealed suboptimal outcomes. One of the major components of genetic counseling , as recommended by many professional medical societies, is to inform patients about familial risk and to encourage discussion with relatives. When patients do not inform their at-risk relatives about potentially actionable genetic risks e.

If a provider is considering overriding patient confidentiality or consent to directly notify relatives about genetic information, it is important to consider a consultation with one or more of the following: ethicist, ethics committee, legal counsel, privacy officer, and, if applicable, institutional review board to assure adherence to local ethical standards and legal, regulatory, and privacy requirements. Patients are encouraged to provide information to at-risk relatives about family history and genetic testing results that reveal pathogenic or likely pathogenic variants, especially for variants with moderate-to-high cancer risks and for which screening and risk reduction options may be guided by those results.

If a patient declines to notify at-risk relatives, there may be circumstances wherein it could be permissible for the provider to consider directly contacting and notifying the relatives. Such circumstances may include the following:[ 5 ]. In practice, a provider pursuing a justified breach of confidentiality in order to inform at-risk relatives is uncommon.

It is possible that the patient refuses to inform family members but gives permission for their provider to directly contact their at-risk relatives. Many providers may not have access to information about the identity of at-risk relatives or have no way to confirm that contact information for at-risk relatives is correct. Refer to the Strategies to facilitate cascade genetic testing section of this summary and the Family communication about genetic testing and hereditary risk section in the PDQ summary on Genetics of Breast and Gynecologic Cancers for more information about informing at-risk relatives.

There are very few legal precedents that guide whether the duty to directly warn family members is the responsibility of the patient or the provider. The two most prominent cases related to hereditary cancer risk, Pate v Threlkel medullary thyroid cancer and Safer v Pack familial adenomatous polyposis , are also dated and , respectively and may have the most relevance only in the states in which the cases were adjudicated Florida and New Jersey, respectively. The definition of genetic information related to hereditary risk may vary depending on the legal case and the language used in state and federal legislation, although it generally encompasses genetic testing, as well as family history information.

The information below pertains to guidance in the United States, as there is variability in international perspectives and policies. Many professional medical societies and government agencies have published their positions and recommendations on communication between a health care provider and a patient's relatives in regard to disclosure of genetic risk. Several organizations such as the American Medical Association , American Society of Clinical Oncology , National Society of Genetic Counselors , and the International Society of Nurses in Genetics recommend that patients who undergo genetic testing disclose the information directly to their at-risk relatives and do not recommend provider notification of relatives without consent.

However, the American Society of Human Genetics, which encourages individuals to notify their relatives directly, also provides an explication for criteria where it may be ethically permissible for providers to directly notify at-risk relatives. At the federal level, there are strict nondisclosure policies governing private health information. In addition, HIPAA contains a minimum necessary standard , which means that entities that are subject to such regulation can request, and receive, only information relevant to a specific purpose. At the state level, there is significant variability in statutes as they relate to genetic privacy and when, how, by, and to whom genetic information can be released.

The section above primarily addresses the duty to warn relatives when a living patient is unwilling to do so. However, concerns also exist about disclosure of genetic testing results from deceased individuals. This concern has arisen in research contexts related to targeted research findings i. In clinical practice, the duty to warn about genetic testing results in a deceased individual has arisen after such testing is performed as part of an autopsy e. Examples include the following:. In anticipation of these possible scenarios, many genetics providers ask patients to sign a form designating which individuals they would like to have access to their genetic testing results.

HIPAA is a federal law that applies to protected health information in living and deceased individuals. Before contacting relatives about genetic testing results for a deceased individual, it is important to check with a privacy officer or legal counsel to determine if there are specific regulations that apply or whether documentation is required e. In addition, an ethicist, ethics committee, and if applicable, institutional review board may also be consulted to ensure adherence to local ethical standards and legal, regulatory, and privacy requirements. However, more recently, questions have arisen about the duty to warn or duty to rescue the person being tested on the basis of the identification of secondary genomic findings, or genomic testing results that are potentially actionable but were not sought out as part of the indication for testing.

The ACMG also recommends that individuals undergo an informed consent process and that they can opt out of receiving secondary findings. In many cases, these gene lists are much broader than the one recommended by ACMG. A limitation of the list published by ACMG is that it does not encompass several cancer risk genes that are considered high-to-moderate risk and for which screening and risk-reduction measures may be recommended.

However, for many of the genes on the ACMG list, the ACMG and others acknowledge the potential uncertainty about penetrance and, therefore, recommended medical management for individuals who test positive without relevant personal or known family history. In light of the complexities associated with possible outcomes of genomic sequencing, approaches to consenting patients about the types of results they would like to receive may include a discussion of the range of potential findings as opposed to a description of the medical implications for pathogenic variants in a host of specific genes.

Other variants may be clinically valid but are associated with a range of risk and may have clinical utility limited to specific circumstances. For example, pharmacogenomic variants may not predict disease risk at all but have clinical utility for individuals exposed to certain medications. Another group of variants may reveal carrier status for Mendelian conditions but may have no implications to patients if they do not choose to have children.

Carrier testing results may have reproductive implications for their relatives, however. Finally, highly predictive risk variants may be identified that have few options available to lessen disease course or risk e. Another consideration is that somatic testing of tumors may reveal pathogenic variants that, if confirmed in the germline, may have implications for both the patient tested e.

Refer to the Duty to warn considerations section of this summary for more information. One way to address these concerns is to have patients undergo an informed consent process before any tumor testing to alert them about the importance and implications of germline testing for themselves and their relatives. Genetic information obtained from genetic susceptibility tests may have medical, economic, and psychosocial implications for the individual tested and his or her family members. The potential for employment and insurance discrimination is a common concern for individuals considering genetic testing. Refer to the Informed Consent subsection of this summary for more information about discrimination issues related to cancer genetics services.

State and federal legislation statutes have been developed to prevent the use of genetic information for employment practices, such as hiring, promotion, and salary decisions; and insurance policies, including life and health coverage, by employers, schools, government agencies, and insurers. Refer to the GINA section of this summary for more information. Federal laws, including GINA, do not cover employer-provided life and disability insurance; however, some states do have legislation addressing the use of genetic information for life and disability policies. Current state statutes and bills may be found through NHGRI's Genome Statute and Legislation Database , which is a useful resource for patients to consult before undergoing genetic testing.

Examples of relevant legislation regarding genetic information are summarized in Table 3. The information in this table is not comprehensive but provides key points only. Refer to the original sources for more information. This U. GINA established the minimum protection level that must be met in all states. However, for states with more robust legislation in place, GINA does not weaken existing protections provided by state law. Under GINA, it is permissible for employers to request employees' genetic information for the purposes of voluntary wellness programs. However, employers cannot encourage employees to provide their genetic information; this means that if an employee chooses to give genetic information to the wellness program, they cannot receive an additional reward for doing so.

Conversely, if an employee chooses to withhold genetic information, they cannot be penalized. Equal Employment Opportunity Commission, and they are in the process of further revision. GINA and other state and federal protections do not extend to genetic testing of active duty military personnel or genetic information obtained from active duty military personnel.

For example, use of certain antimalaria medications in individuals with glucose 6-phosphate dehydrogenase deficiency can result in red blood cell rupture. Therefore, some genetic information may be critical for maintaining the health and safety of military personnel, given the possible stressful occupational environments they may face. In addition, all military personnel provide a DNA sample to be maintained in a repository that can be used for identification purposes. Results of genetic tests for disease predisposition could influence military eligibility for new enlistments.

For current military personnel, genetic test results could influence worldwide eligibility, assignments, and promotions. Thus, it is important for individuals who are considering enlisting in the military or those who are active duty to determine what specific policies apply to them, and what the implications of genetic testing may be for their current and future military career. The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above. This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about cancer genetics risk assessment and counseling. It is intended as a resource to inform and assist clinicians in the care of their patients.

It does not provide formal guidelines or recommendations for making health care decisions. Board members review recently published articles each month to determine whether an article should:. Changes to the summaries are made through a consensus process in which Board members evaluate the strength of the evidence in the published articles and determine how the article should be included in the summary. Any comments or questions about the summary content should be submitted to Cancer. Do not contact the individual Board Members with questions or comments about the summaries. Board members will not respond to individual inquiries.

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You may wish to use a statistical approach — for example see the Professional guidance: Comparing soil contamination data with a critical concentration on the CL:AIRE website. For groundwater monitoring data, if you are assessing time series data, you can use the groundwater spatiotemporal data analysis tool GWSDAT. It is designed to work with simple time-series data for solute concentration and groundwater elevation.

It can also plot non-aqueous phase liquid thickness. You can use the results to assess potential contaminant linkages and update the conceptual site model. Justify how you have evaluated the risks and include this information in your generic quantitative risk assessment report. When you have assessed each potential contaminant linkage and updated the conceptual site model, decide if:.

If you proceed to options appraisal you may need to collect more detailed information as required by detailed quantitative risk assessment, such as a supplementary investigation. Your decision may need approval or agreement from the regulator. You need to produce a generic quantitative risk assessment report which sets out all of your findings. You may decide to use the NQMS. You will have identified one or more potential contaminant linkages that need a detailed assessment.

Make sure the overall site objectives you set in your preliminary risk assessment are still valid. To define your detailed quantitative risk assessment objectives consider a range of management, other and site-specific technical factors. This may involve refining the generic quantitative risk assessment objectives if you did one. You may need to explain details of a complex site and its assessment to non-specialists, such as members of the public — see communicate the risk. Build on the information you have collected so far. If you did not do a generic quantitative risk assessment you must see the information requirements for a generic quantitative risk assessment.

If you did not do a generic quantitative risk assessment then you will need to design and carry out a detailed investigation. This is usually an intrusive investigation. If you have previously done a detailed investigation as part of a generic quantitative risk assessment then you can evaluate the data you collected to:. Use the site investigation information you have collected to refine the conceptual site model and confirm which potential contaminant linkages you need to assess. You may:. Check if there are any changes in site circumstances that might affect which ones you need to assess. In some cases, you do not always need to derive site-specific assessment criteria or use a risk estimation tool. You may be able to collect additional information to confirm contaminant linkages.

For example, this might include collecting site-specific information on land use or sampling home grown produce to decide whether there is an unacceptable risk. If there is an unacceptable risk then you can use this additional information to develop remediation criteria in the options appraisal stage. Site-specific assessment criteria are values for concentrations of contaminants derived using risk estimation models such as CLEA or RTM. They are based on detailed site-specific information about the characteristics and behaviour of contaminants. If you derive site-specific assessment criteria you must have sufficient specialist knowledge and proceed with caution. Despite the site-specific nature of these assessment criteria, we still expect them to be suitably precautionary, especially in the context of regulatory decisions and agreement.

Site-specific assessment criteria will correspond to how you will evaluate the risks for the site. To derive them you will need detailed site-specific information on the characteristics and behaviour of:. For human health you can use the CLEA tool. We expect that risk assessments for pollution of controlled waters are done in line with the tiered framework set out in the:. Other risk estimation tools are available.

You will have to purchase some of these. They include:. You can use these detailed quantitative risk assessment tools to derive site-specific assessment criteria, if it is appropriate to do so. They will need detailed site-specific information as input parameters. Where appropriate, you can do a model calibration exercise to provide confidence in the predicted model results. You will also need to evaluate the uncertainties and any limitations to ensure that the site-specific assessment criteria are sufficiently precautionary and conservative.

For groundwater monitoring data, if you are assessing time series data you can use the GWSDAT to visualise and interpret it. Understand the sensitivity of the site-specific assessment criteria. You will also need to evaluate any uncertainties to ensure that the site-specific assessment criteria are as representative as possible for the actual site conditions. Justify how you have evaluated the risks and include this information in your detailed quantitative risk assessment report.

You need to produce a detailed quantitative risk assessment report which sets out all your findings. You may need to submit your detailed quantitative risk assessment risk estimation tool if possible , input parameters and output reports if requested by the regulator. As you progress through LCRM you will need to collect and analyse more detailed information about the site. You may need to excavate trial pits, drill exploratory boreholes and construct gas, vapour and groundwater monitoring wells. This section provides an overview of what you need to consider for an intrusive site investigation.

If it is not possible to collect all the required information you may have to go back and review the overall site objectives set in the preliminary risk assessment. For more complex sites, or where piling or penetrative ground improvement methods are proposed see new pathways , we advise you to consult with the relevant regulator. You may need to discuss the proposals for the site investigation and find out if there are any specific regulatory or reporting requirements.

These include geophysics, aerial surveys and satellite image analysis. For example, you can use these to help locate below-ground structures or other features such as buried foundations. An intrusive site investigation presents its own risks and is often closely linked to construction, geotechnical and engineering works. You need to consider health and safety. This is beyond the scope of this document. You can also refer to Annex C of BS investigation of potentially contaminated sites — code of practice.

For an intrusive site investigation you can use a phased approach such as that given in table 1 of BS investigation of potentially contaminated sites — code of practice. A preliminary investigation is a desk study and site walkover — this is done as part of a preliminary risk assessment. It includes an optional exploratory investigation. This can be intrusive, non-intrusive or both. A detailed investigation is the main stage of an intrusive investigation. It involves the collection and analysis of soil, groundwater, ground gases and vapours, surface water and any other media.

After a detailed investigation you may need to do a supplementary investigation. For example, you can use it to:. Find detailed information for sampling quality of soil and groundwater in the guidance on the design and installation of groundwater monitoring points. You can use CIRIA assessing risks posed by hazardous ground gases to buildings for the number of monitoring points required, duration of monitoring programme and information on gas risk assessment. For asbestos see asbestos in soil and construction and demolition materials.

This can help you to identify options to minimise the environmental, social and economic impact of the investigation. To make sure you meet the required degree of confidence you can use the guidance given in BS Investigation of potentially contaminated sites — code of practice on sampling densities. For ground gases and vapours you can use BS Guidance on investigations for ground gas — permanent gases and volatile organic compounds. You need to include appropriate quality control checks. Include trip blanks, duplicates and any relevant calibration certificates. It is important that the information you collect is transparent and the origin is clear.

You must:. When collecting data for risk assessment, you may need to use a wide range of statistical techniques and other approaches to obtain corroborative evidence. Integrating geotechnical investigations with those for contamination, ground gas and other types of investigations is likely to be of benefit for the majority of sites. You can find more information on this approach in BS Code of practice for ground investigations. Constructing boreholes may introduce new pathways. You may need to do an assessment to decide if boreholes need to be decommissioned to prevent any ongoing risks.

Discuss this with the relevant regulator. Piling and penetrative ground improvement methods are typically deeper than standard foundations. This is likely to increase the risk by creating new pathways. It also has the potential to increase the risk to human health, contaminate groundwater, or to allow migration of ground gases and vapours. Piling and penetrative ground improvement methods can also result in significant changes to the conceptual site model, risk assessment, remediation and the subsequent verification of land contamination. You must contact the relevant regulator if you propose to use these methods. You may need to do a piling risk assessment.

This guidance only applies to chemical testing of soils for land contamination on sites we regulate. Check Monitoring emissions to air, land and water for other monitoring requirements. To test soils using rapid measurement techniques you must meet the Environment Agency requirements. Laboratories can be permanent or mobile. They can also include organisations that take samples and do on-site analysis.

You must use methods that follow the soil monitoring performance standards. These standards explain how to submit chemical test data on potentially contaminated sites. They do not directly cover sampling. You can find further information on sampling in BS Investigation of potentially contaminated sites — code of practice. A rapid measurement technique is any analytical technique that provides information on the characteristics of a site to allow you to make real-time decisions. This relates to accreditation of the company who is doing the testing, not the rapid measurement technique device. If you use a rapid measurement technique you must make sure the data you generate is relevant, sufficient, reliable and transparent. To support regulatory decisions, we require the data from a rapid measurement technique to be comparable to data provided by a permanent laboratory using MCERTS accredited techniques.

There are advantages and disadvantages to using rapid measurement techniques instead of laboratory analysis. You must get approval from the Environment Agency for the protocol. Check that other regulators agree it is suitable. Give an appropriate person, for example the site manager, the authority and overall responsibility for on-site testing. Designate deputies who are capable of doing this role. Define the roles and responsibilities for all other staff involved.

Write these into policies and procedures to cover:. These policies and procedures must be part of a quality management system. We recommend that an accredited certification body certifies this to improve confidence in the monitoring process. You must have a clear document control system. This will make sure that you only use the latest versions of documents and procedures. Your records must provide an audit trail from designing the sampling programme to reporting the results. You must set out how you will check the quality of the rapid measurement technique you use.

This must include the measures you will take to make sure the results are reliable. For example, how you will:. Correct analysis of the control material makes sure that the rapid measurement technique is working properly. Record the results on a control chart. This chart needs to show operational limits that, if exceeded, would invalidate the analytical results. The rapid measurement device may have built-in internal quality control and other performance checks. You must have a documented procedure for external quality control. This must include methods for investigating and recording the actions you take for poor performance. External quality control involves analysing homogenous samples with unknown values from an external source.

For example, from an independent third party proficiency testing provider, a manufacturer or a similar scheme. This would involve taking a number of duplicate samples to the laboratory to compare results. Results are then statistically analysed to compare them across different organisations or sites. The data from the rapid measurement technique does not have to provide results that match the laboratory results. They must however, be demonstrable and reliable. Carry out audits that cover all aspects of the monitoring process. This will verify that you are complying with your documented procedures. Record the audit findings and any corrective actions.

Make sure any corrective actions continue to be effective. Find information about some of the common types of rapid measurement techniques in Annex F of BS Investigation of potentially contaminated sites — code of practice. All land contamination investigation and analysis involves a level of uncertainty. Every analytical method has benefits and limitations. You can reduce uncertainty by collecting the same or complementary data from different sources. Consider the:. The data you collect must be relevant, sufficient, reliable and transparent — you must check the quality of the information. When we assess results for the sites we regulate, we will take into account the entire dataset. You will need to report on the findings from the field investigation.

See field investigation reporting for further details. You must be a competent person to produce risk assessment reports. You need to report on each tier of risk assessment. You can produce a single report for this stage as long as it contains the correct information and follows the requirements of this guide. For large, complex sites, or if you are phasing intrusive site investigations you may need to produce individual reports.

Your reports will need to include both factual and interpretative information. Keep factual and interpretive information separate. You can use these checklists to find out what reports you need to produce and what type of information to include. If applicable, you may have to provide, your detailed quantitative risk assessment risk estimation model or input parameters to the regulator as part of your submission. The report on the field investigation is factual information. Keep it separate from interpretative information.