Genetics service providers are rare but valuable resources. The continued evolution of advancing technologies have allowed clinicians to use alternate service delivery models to meet the needs of a growing population of patients requiring genetic evaluation, and to increase access to genetics services.
Clinical Services and Patient Follow Up
Syndrome-Specific Fact Sheets and Clinical Guides
See a full list of syndrome-specific information, including fact sheets and more.
Annual Patient Needs and Compliance Surveys
- APC (Attenuated Familial Adenomatous Polyposis) Medical Follow Up Survey: Adult
- APC (Familial Adenomatous Polyposis) Medical Follow Up Survey: Adult
- APC (Familial Adenomatous Polyposis) Medical Follow Up Survey: Pediatric
- ATM Medical Follow Up Survey
- CHEK2 Medical Follow Up Survey
- Hereditary Breast and Ovarian Cancer syndrome (HBOC) Patient Needs and Compliance Survey (PDF version) (electronic version)
- Lynch Syndrome (LS) Patient Needs and Compliance Survey (PDF version) (electronic version)
- MUTYH (MUTYH-Associated Polyposis) Medical Follow Up Survey
- PALB2 Medical Follow Up Survey
- Abstract: The Innovative Use of RedCap as a Means to Re-contact Patients with Hereditary Cancer
Information entered in these surveys will not be reviewed or collected for research or clinical purposes.
Genetic testing results can have important implications for family members. It is important that at-risk relatives consider genetic testing to clarify their personal risks, which will help their clinicians coordinate appropriate cancer surveillance or risk-reducing options.
It is strongly recommended that a health care provider be involved in the genetic counseling, testing, and test interpretation/disclosure process to guide patients who are using genetic testing results for clinical management.
Kintalk is a program based out of UC San Francisco that allows patients to easily and securely share important genetic health information with at risk family members and learn about hereditary cancer.
Identifying Genetics Services
Find a Genetic Counselor was developed by the National Society of Genetic Counselors and allows clinicians and patients to identify local genetic counselors. The user can specify distance willing to travel; type of consultation preferred (phone or in-person); and specialty.
Color Genomics can coordinate genetic testing and send genetic testing kits within the United States as well as to several other countries. Please visit this site for more information.
Invitae allows individuals to order genetic testing and offers clinician guidance.
Identifying Community Resources
FindAGeneticCounselor.com: This resource developed by the National Society of Genetic Counselors allows clinicians and patients to identify local genetic counselors. The user can specify distance willing to travel, type of consultation preferred (phone or in-person), and specialty.
Increasing Access at Your Practice
Genetic counselors provide a valuable service to patients. However, access to genetic counselors may be limited at certain practices or in certain geographic regions. With advances in telemedicine and telemedicine platforms, telegenetics service providers are able to work with clinicians and medical practices to integrate genetic counseling into the workflow and increase access to this important aspect of health care.
Clinical Trials Databases
ClinicalTrials.gov: Database provided by the U.S. National Library of Medicine (National Institutes of Health) that lists privately and publicly funded clinical studies conducted around the world.
National Cancer Institute Clinical Trials: A searchable database of clinical trials supported by the National Cancer Institute. Clinical trials are offered at locations across the United States and Canada.
Population Health and Precision Medicine
All of Us: A research program through the National Institutes of Health that is working to improve health care by building a diverse database that can inform thousands of studies on a variety of health condition in order to understand risk factors for certain diseases, better tailor treatments and therapies, connect people to the right clinical studies, and learn how technology can improve health.
Detecting Unaffected Lynch Syndrome (DUAL): This initiative through UT Southwestern Medical center implemented family history-based population screening for Lynch syndrome and other hereditary cancer syndromes. Enrollment is now closed.
Genetic Testing for Men (GENTLeMEN): This study seeks to remove barriers and improve access to genetic testing and counseling. Through this study, men in Washington state with metastatic prostate cancer can receive free genetic testing and genetic counseling.
Genomes2People: Funded by the NIH, this research program at Brigham and Women’s Hospital, Broad Institute and Harvard Medical School explores medical, behavioral and economic impact of using genomic information in medicine and in society at large
ICARE: A study for women who have a pathogenic or likely pathogenic PALB2 gene mutation. The purpose of the study is to determine the best treatment options for women with PALB2 mutations.
Information is Power: HudsonAlpha developed the project to allow individuals in North Alabama access to information about their cancer risks through genetic testing.
Making Genetic Testing Accessible (MAGENTA): A collaborative study to improve availability of genetic testing for hereditary cancer syndromes to at-risk individuals through use of an online genetic testing service. Enrollment is now closed.
MyCode: This is a precision medicine project through Geisinger. It includes a system-wide biobank designed to store blood and other samples for research use by Geisinger and Geisinger collaborators.
Ohio Colorectal Cancer Prevention Initiative: This initiative includes 50 hospitals throughout Ohio and focuses on screening newly diagnosed colorectal cancer patients and their relatives for Lynch syndrome.
Risk Factor Analysis of Hereditary Breast and Ovarian Cancer: The largest long-term study of women with a BRCA1 or BRCA2 mutation. Started by Dr. Steven Narod (Women’s College Research Institute) in 1995, the purpose of the study is to understand the prevention and treatment of hereditary breast and ovarian cancers.
Wisdom Study: A collaboration between UCSF, UCLA Health, UC San Diego, UC Davis, UC Irvine, U Chicago Medicine, LSU Health, University of Alabama at Birmingham, and Stanford Health to determine the best approach for breast cancer surveillance in women.
WISP Trial: The Women Choosing Surgical Prevention study is a multi-site study to determine whether interval salpingectomy, followed by delayed oophorectomy (ISDO) can improve sexual functioning and menopausal symptoms compared to standard risk-reducing salpingo-oophorectomy (RRSO)
Cancer and Genetics Research Resources
Advocure NF2: Information and support for people with NF2 through advocacy and fostering research on NF2. Ongoing research opportunities are listed.
Alive and Kickn: Alive and Kickn is a support group for patients and families with Lynch syndrome. They aim to help educate patients, encourage screening, allow patients to connect with others with Lynch syndrome, and promote research. Their HEROIC Registry allows patients to share their own genetic test results to further research about Lynch Syndrome.
American Childhood Cancer Organization: Provides information about childhood cancers, advocacy and resources, including information about clinical trials.
Association for Multiple Endocrine Neoplasia Disorders: The group is based in the UK but has a branch in the US (AMEND USA). The group provides information and support for individuals with MEN1, MEN2 and related disorders and also maintains a research registry for patients and families who would like to participate in future research.
AT Children’s Project:This group promotes research and education pertaining to Ataxia-Telangiectasia (A-T). They provide information about ongoing clinical studies and trials for A-T.
Basser Research Center for BRCA1&2: The University of Pennsylvania has established a new center focused solely on the prevention and treatment of cancers that are associated with heritable BRCA mutations. The Basser Center houses several initiatives focused on studying hereditary cancer, and provides funding for collaborative research, education, and outreach programs around the world.
Bloom’s Syndrome Foundation: The foundation promotes research and education pertaining to Bloom’s syndrome.
Children’s Brain Tumor Foundation: A non-profit organization that provides information and support resources for families of children with brain and spinal cord tumors and supports research on childhood brain and spinal cord tumors.
Children’s Tumor Foundation: Resource for patients and families with NF1, NF2 or schwannomatosis that provides information and research opportunities.
Colon Cancer Alliance Clinical Trials for Colon Cancer and Rectal cancer: This resource provides patient-friendly information about clinical trials for colorectal cancer. The Colon Cancer Alliance provides information about living with a colon cancer diagnosis, current clinical trials for colon cancer, treatments for colon cancer, personal stories of survivors, and additional support information. They also have a section for young individuals diagnosed with colon cancer.
Colon Cancer Alliance for Research & Education for Lynch Syndrome: CCARE Lynch Syndrome is a 501(c) 3 non-profit dedicated to increasing Lynch syndrome awareness through advocacy, research and education. The Perlman Family CCARE Lynch Syndrome Research Stipend is awarded annually to researchers studying Lynch syndrome and related diseases.
CureSearch for Children’s Cancer: Funds and supports targeted and innovative children’s cancer research with measurable results, and is a source of information and resources for those affected by children’s cancer.
Gastric Cancer Foundation: The foundation focuses on research, education, and advocacy for patients affected by gastric cancer. They were the first group to form a gastric cancer registry for research, but also focus on genetic research as well.
Genetics of Endocrine Neoplasias Registry (GENR):The purpose of the registry, through MD Anderson Cancer Center, is to better understand the genetic basis of endocrine tumors and cancers.
Global Genes: The Global Genes' mission is centered on increasing rare disease awareness, public and physician education, building community through social media and supporting research initiatives to find treatments and cures for rare and genetic diseases.
Gorlin Syndrome Association: The association provides information and resources for those with Gorlin syndrome in addition to research opportunities through clinical trials and GSA registry.
International Ovarian and Testicular Stromal Tumor Registry: Repository of clinical and biologic data for ovarian and testicular stromal tumors to facilitate current and future research. Provides expert pathologic assessment establishing the diagnosis of ovarian and testicular stromal tumors and similar tumors and provide histopathologic details for each patient. Determines the prevalence of DICER1 germline mutations in patients with ovarian and testicular stromal tumors. The Registry determines the DICER1 immunohistochemical expression and miRNA expression profiles of gonadal stromal tumors with and without germline DICER1 mutations.
International Pleuropulmonary Blastoma Registry: The purpose of the registry is to continue to learn about PPB, provide latest information about diagnosis and treatment of PPB, explore genetic causes of PPB and educate the medical community about Registry findings. Family members can enroll their child using a consent form to authorize their child’s hospital and physicians to share information with the PPB Registry.
International Thyroid Oncology Group: This group offers thyroid cancer patients connections to other patients, education resources, and research opportunities to help find better cures for thyroid cancer patients.
International WAGR Syndrome Association: This group provides information and support resources for families of individuals with WAGR syndrome, as well as a patient registry.
Kidney Cancer Association: The association provides information on the diagnosis and treatment of kidney cancer, including hereditary kidney cancer, as well as support resources and information about clinical trials.
Know Your Tumor Precision Medicine Service: A service offered by the Pancreatic Cancer Action Network in collaboration with Tempus that provides molecular tumor profiling and treatment options for patients with pancreatic cancer. The Pancreatic Cancer Action Network is a nationwide network of people dedicated to working together to advance research, support patients affected by pancreatic cancer.
Li-Fraumeni Syndrome Association: LFSA provides a wide range of information, advocacy, and support services for individuals and families with Li-Fraumeni Syndrome. They support a consortium of researchers, medical providers and caregivers to further research and promote optimal care for the LFS community. They also hold an annual conference around the United States for patients with LFS.
Lynch Syndrome International: Lynch Syndrome International is a global, 501 (c)(3) nonprofit organization which provides services of support to those affected by Lynch syndrome. They also support for research endeavors and connect patients to research studies and/or clinical trials pertaining to Lynch syndrome.
Melanoma Research Foundation: The Melanoma Research Foundation is a non-profit group committed to the support of medical research in finding effective treatments for melanoma. The MRF also educates patients, caregivers and physicians about the prevention, diagnosis and treatment of melanoma. Additionally they offer pen pals, forums, and other patient-support information.
Memorial Sloan-Kettering Cancer Center, Retinoblastoma Program: Includes information about Retinoblastoma, diagnosis and treatment, clinical trial, support programs and services, and resources for the Blind and Visually Impaired.
National Pancreas Foundation Clinical Trials Resource Center: This resource, in partnership with CenterWatch, provides information on clinical research and new medical therapies for treating pancreas disease and related indications.
National Pancreas Foundation National Patient Registry: The purpose of the registry is to better understand pancreatic disease, effectiveness of treatments, and the quality of life for patients with pancreatic conditions.
ThyCa- Thyroid Cancer Survivors’ Association, Inc.: The group provides information and support (including list of local support groups) for people diagnosed with thyroid cancer, information about thyroid cancer conferences, the latest treatments, and research opportunities. The group promotes research and research funding, and provides information for thyroid cancer clinical trials.
National Ataxia Foundation: The foundation is the world leader for Ataxia research and have opportunities for patients to be involved in research through a registry, through clinical trials, tissue donation, and other means.
NF2 Information & Services: The group provides information on NF2 symptoms, diagnosis and treatment and lists some ongoing research opportunities.
No Stomach for Cancer: The organization provides support and resources for patients with stomach cancer. They work to connect patients and families with current research studies and clinical trials to help with efforts stomach cancer prevention efforts.
PanCAN’s Patient Registry: A global online database through the Pancreatic Cancer Action Network to look for patterns in treatments, side effect management, and diagnostics that will lead to improved outcomes for patients with pancreatic cancer. The Pancreatic Cancer Action Network is a nationwide network of people dedicated to working together to advance research, support patients affected by pancreatic cancer.
Pancreatic Cancer Action Network Clinical Trial Finder: A comprehensive and up-to-date database for pancreatic cancer clinical trials in the United States. The Pancreatic Cancer Action Network is a nationwide network of people dedicated to working together to advance research, support patients affected by pancreatic cancer.
Pheo Para Alliance: This group provides information about pheochromocytoma and paraganglioma and funds research. Information about clinical research is also available, along with other support resources.
Pheo Para Troopers: A patient-run group for individuals with pheochromocytoma or paraganglioma. Their goal is to empower and support patients with pheochromocytoma and paraganglioma through knowledge, a sense of community, and advocacy while sponsoring key initiatives in data collection, treatment, and patient care.
Prevent Cancer Foundation: The foundation’s goal is to prevent cancer through research, advocacy, education and outreach. Funding is available for cancer prevention research.
Prospective Registry of MultiPlex Testing (PROMPT): Online research registry for adults who have had genetic panel testing for hereditary cancer to better understand risks associated with certain genetic variants. The study is being conducted by researchers at the University of Pennsylvania, Dana Farber Cancer Center, Memorial Sloan Kettering and Mayo Clinic.
PTEN Hamartoma Tumor Syndrome Foundation: A foundation aiming to raise funds to provide financial assistance to patients and to support PTEN research. This website also has links to several patient resources related to PHTS/Cowden syndrome/BRRS
Tuberous Sclerosis Alliance: Provides information, support, and research resources for individuals with Tuberous Sclerosis and their families as well as clinicians and researchers.
Tuberous Sclerosis Association: Provides information, support, and research resources for individuals with Tuberous Sclerosis and their families as well as clinicians and researchers.
VHL Family Alliance: This group provides information and support resources, including research opportunities for individuals and families with VHL.