Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol

Guidelines currently state that genetic testing is clinically indicated for all individuals diagnosed with ovarian cancer. Individuals with a prior diagnosis of ovarian cancer who have not received genetic testing represent missed opportunities to identify individuals with inherited high-risk cancer variants. For deceased individuals, post-mortem genetic testing of pathology specimens allows surviving family members to receive important genetic risk information. The Genetic Risk Assessment in Ovarian Cancer (GRACE) study aims to address this significant healthcare gap using a “traceback testing” approach to identify individuals with a prior diagnosis of ovarian cancer and offer genetic risk information to them and their family members. This study will assess the potential ethical and privacy concerns related to an ovarian cancer traceback testing approach in the context of patients who are deceased, followed by implementation and evaluation of the feasibility of an ovarian cancer traceback testing approach using tumor registries and archived pathology tissue. Descriptive and statistical analyses will assess health system and patient characteristics associated with the availability of pathology tissue and compare the ability to contact and uptake of genetic testing between patients who are living and deceased. The results of this study will inform the implementation of future traceback programs.

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How does giving a little vs. a lot of information about screening for ovarian cancer based on genetic risk assessment influence thoughts and feelings about taking part in ovarian cancer genetic testing and screening?

http://isrctn.com/ ◽

10.1186/isrctn48627877 ◽

2015 ◽

Author(s):

Susanne Meisel

Keyword(s):

Ovarian Cancer ◽

Risk Assessment ◽

Genetic Testing ◽

Genetic Risk ◽

Cancer Genetic ◽

Genetic Risk Assessment

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Improving our model of cascade testing for hereditary cancer risk by leveraging patient peer support: a concept report

Hereditary Cancer in Clinical Practice ◽

10.1186/s13053-021-00198-7 ◽

2021 ◽

Vol 19 (1) ◽

Author(s):

Suzanne C. O’Neill ◽

Jada G. Hamilton ◽

Claire C. Conley ◽

Beth N. Peshkin ◽

Rosalba Sacca ◽

...

Keyword(s):

Cancer Risk ◽

Peer Support ◽

Family Communication ◽

Genetic Risk ◽

Family Members ◽

Risk Information ◽

Cancer Genetic ◽

Genetic Risk Information ◽

Cascade Testing ◽

Support Model

AbstractConsensus and evidence suggest that cascade testing is critical to achieve the promise of cancer genetic testing. However, barriers to cascade testing include effective family communication of genetic risk information and family members’ ability to cope with genetic risk. These barriers are further complicated by the developmental needs of unaffected family members during critical windows for family communication and adaptation. Peer support could address these barriers. We provide two illustrative examples of ongoing BRCA1/2-related clinical trials that apply a peer support model to improve family communication and functioning. Peer support can augment currently available genetic services to facilitate adjustment to and effective use of cancer genetic risk information. Importantly, this scalable approach can address the presence of cancer risk within families across multiple developmental stages. This applies a family-centered perspective that accommodates all potentially at-risk relatives. This peer support model can be further applied to emerging topics in clinical genetics to expand reach and impact.

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Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health

European Journal of Human Genetics ◽

10.1038/s41431-021-00966-y ◽

2021 ◽

Author(s):

Jarle Johannessen ◽

Terje Nærland ◽

Sigrun Hope ◽

Tonje Torske ◽

Anett Kaale ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Genetic Testing ◽

Family Planning ◽

Genetic Risk ◽

Autism Spectrum ◽

Risk Information ◽

Spectrum Disorder ◽

Future Health ◽

Genetic Risk Information ◽

Right Not To Know

AbstractClinical relevance of genetic testing is increasing in autism spectrum disorder (ASD). Information about genetic risk may contribute to improved diagnostics, treatment and family planning, but may also be perceived as a burden. Knowledge about the families’ preferences with regard to genetic risk information is important for both health care professionals and policy makers. We investigated attitudes towards sharing information about genetic risk of ASD and knowledge about future health among parent members of the Norwegian Autism Association (N = 1455) using a questionnaire, and the relationships with parent and child characteristics, such as age, gender and ASD severity. Most preferred autonomy in deciding whom to inform about genetic risk of ASD (74.4%) and a minority supported extensive intra-familial disclosure of the genetic risk (41.1%). The majority agreed that it is an obligation to know as much as possible relevant for future health (58.0%) and only 51.7% agreed to a principle of a ‘right not to know’. In regression models, the attitudes were associated with opinions about benefits and harms of genetic testing (e.g., treatment, family planning, understanding of ASD pathology, insurance discrimination and family conflict). In sum, the findings show that most parents want to know as much as possible relevant for their children’s future health and keep their autonomy and intra-familial confidentiality about genetic risk information. Nearly half of the parents were not concerned with a “right not to know”. These attitudes can inform development of guidelines and bioethics in the age of genomic precision medicine.

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Patient-reported anticipated barriers and benefits to sharing cancer genetic risk information with family members

European Journal of Human Genetics ◽

10.1038/s41431-021-00890-1 ◽

2021 ◽

Author(s):

Kelsey Stuttgen Finn ◽

Joel Pacyna ◽

Cindy Azevedo Tsou ◽

N. Jewel Samadder ◽

Richard Sharp

Keyword(s):

Genetic Risk ◽

Family Members ◽

Risk Information ◽

Cancer Genetic ◽

Genetic Risk Information ◽

Patient Reported

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Serious Games for Improving Genetic Literacy and Genetic Risk Awareness in the General Public: Protocol for a Randomized Controlled Trial (Preprint)

10.2196/preprints.9288 ◽

2017 ◽

Author(s):

Serena Oliveri ◽

Renato Mainetti ◽

Alessandra Gorini ◽

Ilaria Cutica ◽

Giulia Candiani ◽

...

Keyword(s):

Genetic Testing ◽

Knowledge Transfer ◽

Disease Prevention ◽

Genetic Risk ◽

General Public ◽

Serious Games ◽

Risk Information ◽

Convenience Sample ◽

Genetic Risk Information ◽

The Impact

BACKGROUND Genetic testing and genetic risk information are gaining importance in personalized medicine and disease prevention. However, progress in these fields does not reflect increased knowledge and awareness of genetic risk in the general public. OBJECTIVE Our aim is to develop and test the efficacy of a suite of serious games, developed for mobile and Web platforms, in order to increase knowledge of basic genetic concepts and promote awareness of genetic risk management among lay people. METHODS We developed a new ad-hoc game and modified an arcade game using mechanics suitable to explain genetic concepts. In addition, we developed an adventure game where players are immersed in virtual scenarios and manage genetic risk information to make health-related and interpersonal decisions and modulate their lifestyle. The pilot usability testing will be conducted with a convenience sample of 30 adults who will be categorized into 3 groups and assigned to one game each. Participants will be asked to report any positive or negative issues arising during the game. Subsequently, they will be asked to complete the Game Experience Questionnaire. Finally, a total of 60 teenagers and adults will be enrolled to assess knowledge transfer. Thirty participants will be assigned to the experimental group and asked to play the serious games, and 30 participants will be assigned to the control group and asked to read leaflets on the genetic concepts conveyed by the games. Participants of both groups will fill out a questionnaire before and after the intervention to assess their topic-specific knowledge of genetics. Furthermore, both groups will complete the self-efficacy questionnaire, which assesses the level of confidence in using genetic information. RESULTS We obtained evidence of game usability in 2017. The data will be submitted to a peer-reviewed journal and used to improve the game design. Knowledge-transfer testing will begin in 2018, and we expect to collect preliminary data on the learning outcomes of serious games by December 2018. CONCLUSIONS It is important to educate the general public about the impact of genetics and genetic testing on disease prevention and the consequent decision-making implications. Without such knowledge, individuals are more likely to make uninformed decisions or handover all decisions regarding genetic testing to their doctors. Technological innovations such as serious games might become a valid instrument to support public education and empowerment. INTERNATIONAL REGISTERED REPOR DERR1-10.2196/9288

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