AHN Genetics Services

Genetic evaluations

A genetic evaluation will be tailored to your personal history, as well as your family’s history, and cancer risk. This consists of meeting with an AHN genetic counselor who will conduct in-depth consultation. Your interview and the findings will inform options for your care. Genetic evaluations of your hereditary cancer risk could warrant further genetic testing to provide a deeper look into your risk factors.  

Before your first appointment with a genetic counselor, you should, if possible, talk with family members who know your family health history . To provide a complete overview, it’s ideal to know of anyone in your immediate family who has or had cancer, where it began in their body, and what age they were diagnosed.

Complete our family cancer history questionnaire [PDF]

Our consultation helps us learn about and understand:

• Cancer presence in your immediate family.
• Family members who have certain type of cancers or developed them at an early age.
• Any links in your family to hereditary cancer syndromes or known genetic mutations.

These interviews help inform your AHN care team with what treatment options to pursue that are specific to your genetic risk factors. Your options could include pursuing lifestyle changes, additional screenings, surgery to remove at-risk organs, or medications.

Chromosome testing and analysis is very rarely ordered as part of an oncology genetic testing workup. Our team’s testing is performed in the gene level and not whole chromosomes. The AHN Genetic Services focuses on gene analysis, as it gives us a more precise view of your genetic risk factors.

Hereditary breast and ovarian cancer

You may have heard of breast cancer and ovarian cancer testing. This test looks at the BRCA1 and BRACA2 genes, respectively. Gene mutations can sometimes be a cause of breast and ovarian cancers. BRCA testing is a genetic test that looks for potential mutations (changes) in these specific genes that could affect their ability to effectively repair DNA. Knowing how these genes function in repairing damaged DNA helps prevent the development of cancer. Other genes are associated with hereditary breast and ovarian cancer, so AHN Genetic Services test for those as well.

BRCA testing can be done using a saliva or blood sample. The DNA in the sample provided is analyzed for mutations in the BRCA1 and BRCA2 genes, as well as others. As a patient, this simple, quick test can give you and your care team a wealth of information.

Your results, along with your family history, will be analyzed. A positive result means there is a mutation of one of the genes tested, and you are at greater risk of certain cancers. Knowing this can cause stress. We’re here for you. Having this information will arm you and your care team with the information needed to have regular screenings and tests, and create a plan that can help ease your mind.

A negative result means no mutations were found in the genes tested. This does not mean that there is absolutely no cancer risk, but simply a lower risk than that of a positive result. Your AHN Care Team and the cancer support services are still here to keep get you the regular preventive care and screenings necessary to stay ahead of any potential cancer diagnoses.

Hereditary colon cancer

If you have a family history of colon cancer or polyps, it's important to talk to your doctor about genetic testing and appropriate screening recommendations. Those with a family history of hereditary colon cancer or polyposis are at greater risk for developing the disease, because they have an inherited genetic condition. This can often also increase the risk of other cancers as well.

Genetic testing can look for the inherited genetic mutations that cause or increase the risk of developing cancer. For many of the cancer syndromes, polyps are the main concern to look for, because those can develop into cancer.

Hereditary colon cancer syndromes include:

• Familial Adenomatous Polyposis (FAP): The most common syndrome, characterized by hundreds to thousands of polyps in the colon and rectum.
• Lynch Syndrome (HNPCC): Also known as hereditary nonpolyposis colorectal cancer, this syndrome is associated with a higher risk of colorectal cancer, as well as endometrial and other cancers, but typically fewer polyps.
• MYH-Associated Polyposis (MAP): This syndrome causes the formation of tens to hundreds of polyps, primarily in the right side of the colon.
• Peutz-Jeghers Syndrome (PJS): PJS causes polyps in the colon and small intestine, as well as pigmented spots on the lips, mouth, and fingers.
• Juvenile Polyposis Syndrome (JPS): This syndrome causes polyps in the colon and stomach, often with a higher risk of colorectal cancer in adulthood.

Screening for these syndromes and working closely with your doctor if you are at increased risk for hereditary colon cancer are critical. When you and your doctor know your specific condition, a personalized screening plan can be created for early detection. Early detection and intervention can significantly improve outcomes for individuals with hereditary colon cancer syndrome.

Additional hereditary cancers

There are other hereditary cancers to be on the lookout for, and through our genetic services, you can stay on top of your health. If you have a personal or family history, you may be referred to our genetic services.

Some of the reasons for a referral to genetics include:

• Family or personal history of two different primary cancers — such as breast and ovarian cancers or uterine and colon cancers.
• A rare cancer that is more likely to be related to a hereditary cause — such as male breast cancer, medullary thyroid cancer, or pheochromocytoma/paraganglioma.
• A cancer that has a higher likelihood of being related to a genetic cause — such as ovarian, pancreatic, or metastatic prostate cancer.
• A known cancer predisposition gene in the family.

AHN cancer genetic specialists

We offer specialized expertise in genetic testing and counseling. Our genetic counselors offer specialized expertise in genetic testing and counseling through in-depth interviews with you. These consultations help us provide tailored options for preventive care.

Our team includes:

• Kyla Morphy, MGC, LCGC
• Jacqueline Hoover, MS, LCGC
• Jaclyn Amurgis, MS, LCGC
• Stephanie Betts, MS, MPH, LCGC
• Amy Kunz, MS, LCGC
• Anna Chloe Phillips MGC, LCGC
• Claire Plack, MS, LCGC

How to get care

If you have a personal and/or family history of cancer and would like more information, call the Cancer Genetics program at (412) 359-8064.

Before your appointment

We need information about your family and their medical history related to cancer. If possible, please  gather and bring this history to your first appointment. Also, complete a family history questionnaire [PDF] to share with your genetic counselor.

You may need to provide medical records if we don’t have access to them to ensure accurate risk assessment.

During your appointment

Your genetic counselor will review your:

• Personal and family medical history.
• Basic information on inheriting cancer from genetic history.
• Chances for a hereditary cancer susceptibility.

If your genetic counselor recommends further examination, they will discuss the options, risks, benefits, limitations, and costs of testing.

Genetic testing may be scheduled at the time of your appointment. If you do not need genetic testing, we review estimated risks for certain cancers based on your age, family history, and other factors. We can also go over cancer screening options. If genetic testing is completed, your genetic counselor will call to review the results to discuss your cancer risk and screening recommendations.  

Refer your patient to an AHN Genetic Services

There are three ways for medical professionals, who are not a part of Allegheny Health Network, to refer their patients to an AHN Cancer Genetic Counselor and request their first appointment. You can:

1. Call (412) 578-HOPE (412) 578-4673 to speak with an AHN Cancer Institute scheduling coordinator.
2. Go to Find Care to find the right AHN specialist and the most convenient location. Then refer your patient, provide relevant patient details, and request an appointment directly from the doctor's profile.
3. Use AHN Physician Access to refer your patient to an AHN Cancer Institute specialist and request an appointment.

For more information about referring your patient to an AHN specialist, read the Indenpendent Physician Referral FAQs.

Follow your patient's health care at AHN with EpicCare® Link™

After referring your patient to an AHN specialist, use the EpicCare Link platform to collaborate with their AHN specialist, view your patient's test results, treatment plan, and progress.

Log in to your EpicCare Link account

If you are new to EpicCare Link, or need to request your own EpicCare Link account, read: EpicCare Link for Patient Follow-up, for user instructions and new account request forms.

When EpicCare Link is not an option for patient's AHN medical records

If you can't access your patient's AHN test results through the EpicCare Link platform, your patient will need to complete and submit the correct AHN Medical Records Release form, based on their state of residency. Support your patient's request by downloading the correct medical records release form for them:

• AHN Medical Records Release Form for New York state residents [PDF]
• AHN Medical Records Release form for all other patients [PDF]