Clinical Reference for Providers

Human genomics promises to improve the diagnosis, treatment, and prevention of disease. The proliferation of genetic tests has been greatly accelerated by the Human Genome Project over the last decade.

  • It is anticipated that genomics will bring physicians a powerful tool to discover the correlation between hereditary elements and environmental factors; however, the expected transformation to using genomics-based medicine will occur in stages as new tests are proven and integrated into practice.
  • Genetic testing holds immense promise for diagnosis and treatment.
  • Practicing physicians and health professionals need to be trained in the principles, applications, and the limitations of genomics.

Genomic medicine Is the use of genomic information and its derivatives (RNA, proteins, and metabolites) to guide medical decision-making. It is an essential component of personalized medicine.
Personalized medicine is a form of medicine that uses information about a person’s genes, proteins and environment to predict diagnosis and disease.

The goal is to shift the emphasis in medicine from reaction to prevention. Personalized medicine introduces the ability to use molecular markers that signal disease risk or presence before clinical signs and symptoms appear. It offers the opportunity to focus on prevention and early intervention rather than on reaction at advanced stages of disease. In many areas, the clinical interventions can be life-saving and understanding of a disease process allows optimized prevention strategies.

Personalized medicine can:

Direct the selection of optimal therapy and reduce trial-and-error prescribing

  • Take the novel findings and customize diagnostic testing and therapies for the patient
  • Help avoid adverse drug reactions
  • Increase patient adherence to treatment
  • Improve quality of life
  • Reveal additional or alternative uses for medicines and drug candidates
  • Help control the overall cost of health care

Hereditary Cancer Testing

myGenomics® believes in a team approach to identify and care for patients at risk of hereditary cancer. There are many variables that affect clinical decision-making surrounding testing for this risk, including available guidance on who to test, accuracy of the results, and on-going support in developing a personalized prevention plan.


myGenomics® has chosen to utilize the Illumina® platform for next generation sequencing, which is the most advanced technology with the highest standard of quality in the market today.

Next generation sequencing (NGS) is a term that describes the most advanced type of DNA sequencing technology. NGS allows the ability for an entire human genome or just a particular area of interest to be sequenced within a single day. In contrast, the previous Sanger sequencing technology, used to decipher the human genome, required over a decade to deliver the final draft.

On Going Physician Support

NGS offers scientists the ability to capture a broader spectrum of mutations and evaluate genomes without bias on a highly sensitive technology platform. We can now approach genomic medicine in a more efficient, accurate and cost-effective manner.

The Illumina® platform sequences by synthesis (SBS) technology, which delivers the highest percentage of error-free reads, with the majority of bases having quality scores above Q30. “Q scores” are used to measure base calling accuracy, one of the most important metrics for assessing sequencing data quality. Low Q-scores can lead to false-positive variant calls, which is a mistake no one wants to make when trying to decide on the next steps in preventing or treating hereditary cancer.


myGenomics® follows the recommendations of The National Comprehensive Cancer Network® (NCCN®) when offering guidance on patient criteria for testing. The NCCN® is an alliance of 27 of the world’s leading cancer centers, working together to develop treatment guidelines for most cancers, and dedicated to research that improves the quality, effectiveness, and efficiency of cancer care.

*The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) document evidence-based, consensus-driven management to ensure that all patients receive preventive, diagnostic, treatment, and supportive services that are most likely to lead to optimal outcomes.

Each hereditary cancer syndrome has its own list of specific guidelines for genetic testing according to the NCCN guidelines®. It is generally felt that genetic testing should be strongly considered when all three of the following criteria are met:

  • The person being tested has a personal or family history that suggests an inherited cancer risk.
  • The test results can be adequately interpreted and a specific genetic change can be concluded.
  • The results provide information that will help guide a person’s future medical care.

Personalized Prevention Plan

One of the most important aspects in providing access to hereditary cancer testing is being able to offer a support system for patients and physicians before and after testing. myGenomics® refers to this as the Personalized Prevention Plan and has established vital partnerships to assist both the patient and physician.


The eight steps of the myGenomics® Personalized Prevention Plan are:

  • Education (Patient and Provider)
  • Patient Hereditary Questionnaire (Screener)
  • Provider Hereditary Checklist (Screener)
  • Genetic Expert Consultation and Counseling
  • Prior Authorization Services
  • Access to Genetic Testing
  • Test Results Review with a Genetic Expert
  • Development of Personalized Screening Protocol for Cancer Prevention

Hereditary Cancer Risk Assessment

NCCN Guidelines recommend genetic testing for individuals who answer YES to any ONE of the following:


Abandon the cure-driven approach and move toward personalized proactive prevention.

Assessment criteria based on medical society guidelines. For these individual medical society guidelines, go to Family members include first-, second-, and third-degree blood relatives on both your mother and father’s sides.

What can I expect to learn

There are three possible outcomes of genetic testing: positive, negative and variant of uncertain significance(VUS). We recommend that all patients who undergo and or consider genetic testing should receive genetic counseling or speak to a qualified genetics expert to understand the implications of testing and results.


myGenomics® Predictive Gene tests allow patients to take better control of Cancer and help providers achieve the promise of personalized healthcare

Making an Impact …

Pros and Cons of Genetic Testing



People who are at risk for developing hereditary cancer have to live with uncertainty about their future and their children’s future. A genetic test …

if negative, may:

  • provide a sense of relief for the altered gene.
  • reduce the need for, or at least the intensity of, check-ups, screenings and preventive therapy.

If positive, may lead to:

  • earlier disease detection through more targeted screenings and surveillance.
  • more aggressive education on the signs and symptoms of a particular cancer.
  • consideration for risk-reducing surgeries and/or therapeutic agents.
  • participation in investigational imaging and screening studies, when available, in the context of a clinical trial.
  • behavioral changes to lower the chance of developing the disease.
  • patients making more informed decisions about their future health.



Many of the risks associated with genetic testing involve emotional, social, or financial consequences of the test results. A genetic test …

If positive, may lead to:

  • feeling angry, depressed, anxious or guilty about the results.
  • tension within a family because the results can reveal information about other family members in addition to the person who is tested. It may also put pressure on other family members to be tested.

Ethical issues

Individuals have a moral obligation to communicate genetic information to their family members. Genetic health professionals should encourage individuals to communicate this information to their family members and support them through the process.

Changing Legal Landscape

Increasing public awareness of personalized medicine, coupled with shifting trends in medical malpractice caselaw, has made healthcare providers increasingly vulnerable to liability related to genetic testing. While most doctors still lack adequate training to make healthcare decisions based on genetic tests, an increasing number of their patients are likely to inquire about genetic testing. This gap between advancing science and physicians’ knowledge can be legally troublesome for healthcare providers, if proper safe-guards and referrals are not in place. Making an Impact …

The myGenomics® Difference

Role of Primary Care

Primary care physicians play a vital role in detecting a patient’s risk of developing a hereditary cancer and can easily screen for this during routine patient visits.

Health care professionals can incorporate this service by:

  • educating patients about hereditary cancers and available resources.
  • obtaining a multigenerational genetic family history for each patient.
  • providing a referral to a genetic health professionals when necessary.
  • offering hereditary cancer testing when indicated.

Challenges for Primary Care

Genetic testing is expanding rapidly to become part of mainstream medicine. Increasing use of genetic testing requires providers to be knowledgeable regarding ethical, policy, and practice issues in order to minimize risk for harm, protect the rights of individuals and families, and consider societal context in the management of genetic test results.

However, many primary care providers do not feel sufficiently equipped to meet this growing demand of incorporating genetic medicine into practice.

myGenomics® recognizes this void and has identified a third party organization, Hopes Source, to offer HOPE (Hereditary Outreach Program and Education) to all patients who have a hereditary predisposition. HOPE advocates will:


  • support patients and their families through the process of deciding if hereditary testing is right for them.
  • provide patient education and ongoing resources to gain further knowledge and understanding of the new developments surrounding hereditary cancers.
  • schedule appointments for patients to connect with a genetic expert for consultation and counseling.
  • facilitate the prior authorization process with the patient’s insurance to determine coverage and the patient’s financial responsibility.
  • connect you to peer physicians specialized in Genetic Medicine who will partner with you to develop an ongoing Personalized Prevention Plan for your patient.

myGenomics® would like to partner with you to seamlessly integrate hereditary cancer testing services into your practice!

We are confident that our advanced technology, unique patient support platform and genetic expert access will provide you with the tools you need to be proactive in the fight against hereditary cancers.

Please enroll today at

The myGenomics® Hereditary Cancer Panels


The myGenomics® Hereditary Cancer Panels


The myGenomics® Hereditary Cancer Panels



The Health Insurance Portability and Accountability Act (HIPAA) of 1996 created federal privacy protections that apply to all health information created or maintained by healthcare providers, health plans, and healthcare clearinghouses. myGenomics® complies with HIPPA practices. To learn more about our services, please visit:


The Genetic Information Nondiscrimination Act of 2008, referred to as GINA, is a federal law that protects most Americans from discrimination by health insurance companies and employers based on their genetic information. To learn more about the nondiscrimination act, please visit:


Hopes Source:
Bright Pink:
National Cancer Institute:
National Compressive Cancer Network:

National Org. For Rare Diseases:
The Leukemia & Lymphoma Society:
Susan G. Komen:
Hereditary Colon Cancer Foundation:
Li-fraumeni Syndrome Association:
Pancreatic Cancer Action Network:


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12 The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®):