Genetic Resources for Health Care Providers

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As health care providers, you are critical in bringing genetics into patient care. This page offers guidelines, referral tools, educational opportunities, and more to support you in delivering effective genetic services.

Genetics From Every Point of Care

Preconception and Prenatal

Newborn and Infant

Pediatrics

Adult

The CDC has identified 3 genetic conditions for tier-1 genomic applications. These conditions are a priority because early detection and diagnosis can potentially improve public health through early identification. They include:

  1. Hereditary cancer resources for providers
  2. Lynch syndrome
  3. Familial hypercholesterolemia

Genetic Risk Assessment for Adults Who Are Family Planning

Primary Care Genetic Referral Guides

We saw that many primary care teams don’t have an easy way to spot genetic risks and start referral workflows. To close that gap, we created simple, single-page genetic referral guides. These guides cover some of the most common genetic conditions and condition groups in the population. They help primary health care teams across the state better identify patients who may benefit from referral to a genetic provider. 

These are decision-support tools intended for use during routine care. Use them when a patient's or family's health history points to possible genetic conditions. 

Download the Guides

Why Genetics Matters in Primary Care 

Primary care is where most people first reach the health care system. It’s often where they first share their genetic or family risks. That makes primary care teams uniquely positioned to identify people who may benefit from genetic services, such as genetic counseling or testing.

By adding genetic risk assessment and referral workflows to genetic services, you can find higher-risk patients sooner. These patients may need earlier and more frequent preventative screening or medical interventions. Better access to genetics in primary care can enable more personalized prevention for your patients. 

When To Use the Guides 

The guides are designed for providers, but your entire primary care team can also use them. For example, medical assistants and nurses can flag possible genetic patterns while rooming patients. Front desk staff can use them when entering internal family health history questionnaires. 

Use these guides during:

  • Annual physicals, well-woman, or pregnancy visits. 
  • Discussions about personal or family health history.
  • Chronic disease management appointments.
  • A new diagnosis occurs in a patient or biological relative. 

What's Inside Each Guide

You’ll find the guides cover common genetic conditions that may come up during routine primary care visits. Each guide includes:

  • A brief condition overview.
  • Genetic risk factors: who to consider for genetic referral.
  • A referral pathway: a link to Washington’s genetic clinic directory.
  • Clinical and patient resources.

Optional Support

If your team wants to use the genetic referral guides, you can:

  • Request a tailored consultation. Have questions about a specific case, condition, or need a customized presentation or training session? You can schedule a time with our program.
  • Email us for general questions about the guides or genetic services in Washington at genetics@doh.wa.gov.
  • Connect with your nearest genetic provider. There may be one at your health organization. You can use our genetic clinic directory.

Coverage, Cost, and Reimbursement 

This information covers cost, coverage, and reimbursement for clinical genetic testing, not direct-to-consumer testing. Most people only have access to genetic testing from direct-to-consumer companies they buy themselves. You can change that. 

If a patient is considering genetic testing for health reasons, it is important that they meet with a genetic provider both before and after testing. Find a genetic clinic location. 

Coverage 

Genetic services are often billed as a consultation (such as CPT 96041). Through genetic counseling, patients decide whether to pursue genetic testing. Counseling is billed separately from any ordered testing. Genetic testing is billed under different codes, depending on the recommended test and the reason for it.

Many providers assume genetic counseling and testing are rarely covered or costly. But most commercial plans and Medicaid in Washington cover these services when they are medically necessary or follow genetic guidelines. Clinical genetics teams help patients understand and navigate their insurance coverage. 

Important: Medicare does not reimburse genetic counseling (such as risk assessment, counseling, and coordination of genetic testing) when billed directly by genetic counselors, as genetic counselors are not recognized as providers. Medicare reimburses genetic counseling for certain conditions and under certain criteria when performed by recognized healthcare professionals (such as physicians, nurse practitioners, physician associates, midwives, naturopaths).

Cost

The cost of genetic testing depends on the testing lab, the specific test, and the patient’s insurance provider. The genetic provider can assist the patient in obtaining the most accurate estimate when needed. 

Insurance may still deny coverage even when testing is clearly needed. If that happens, the genetic provider may start an appeal. However, some patients choose to self-pay or financial assistance programs that many genetic testing labs now offer. Self-pay costs can vary. Typically, they have ranged from $250 to $ 1,000. 

Reimbursement 

Some providers worry about billing for genetic referrals, but there are no special requirements. Assessing health history is already part of your visits. Doing it systematically can improve your ability to take action and expand access to personalized, preventive care.

Case Examples 

A Young Adult Learns of Cancer During Family Conversation

Situation

Beatriz is home from college. Over dinner, her father shares that her aunt, her dad's biological sister, was recently diagnosed with breast cancer at age 45. As the family talks more, Beatriz also learns that her dad’s father died from metastatic prostate cancer.
This stays with Beatriz. These relatives had cancer at much younger ages than Beatriz thought you could get cancer. She starts to think about what it might mean for her own health and messages her primary care provider, Dr. Curie, to share this family health history.

What the Primary Care Team Did

Dr. Curie receives Beatriz’s message. The family health history does raise her concern, so she checks the Hereditary Breast and Ovarian Cancer Syndrome Genetic Referral Guide (PDF). 

The guide makes the pattern clear and easy:  

  • Early onset breast cancer (before age 50). 
  • Metastatic prostate cancer (rare). 

Dr. Curie explains that cancer risk can run in families because of shared genetic factors. She suggests genetic counseling to help Beatriz understand her risk. When Beatriz raises concerns about the cost, Dr. Curie reassures Beatriz that insurance typically covers medically necessary genetic counseling. Following their clinic's referral workflows, Dr. Curie places a referral from the guide’s directory. 

Actions You Can Take

Consider adding this question to your routine visits: “Any new family health history since our last visit?”

Family health history changes over time, and this simple question can open the door to identifying genetic risk. 

Additional Information and Resources

Care Team Collaboration

Situation

Philip is filling out the family health history questionnaire before his yearly exam. He notes 2 maternal aunts with uterine cancer. 

What the Primary Care Team Did

During rooming, the medical assistant enters the information. He recalls the Lynch syndrome guide hanging in the breakroom and asks if Philip knows at what age his aunts developed uterine cancer. Philip thinks they were in their 30s or 40s. The medical assistant records this history in Philip’s chart, lets him know it can sometimes point to increased risk, and that he has asked the doctor to review the history.

Dr. McClintock sees the flag and pulls up the Lynch Syndrome Genetic Referral Guide (PDF) to confirm. The pattern is clear: Lynch syndrome - related cancer before age 50. Dr. McClintock explains that this history could mean a higher-than-average risk for other related cancers, such as uterine cancer or colon cancer. Dr. McClintock shares that genetic counseling is an option to better understand whether there is genetic risk. Philip decides to think it over first. Dr. McClintock adds a reminder to his chart to check in at his next visit. 

Actions You Can Take

Share the Lynch Syndrome guide with your entire care team, especially anyone who collects family health history. For example, you could place the referral guides where medical assistants or nurses can reference during rooming or in the breakroom. When the team knows what patterns to look for, they can flag important information before the provider enters the room. 

Additional Information and Resources

High Cholesterol Despite a Healthy Lifestyle

Situation

Candace comes in for her well-woman visit, frustrated. When confirming her medications with the nurse, she mentions that she takes statins, but her cholesterol stays high. She feels the medications should be working, and she is tired of feeling like she's failing at something that should be simple. 

What the Primary Care Team Did

The nurse remembers “persistently high cholesterol” from the Familial Hypercholesterolemia Genetic Referral Guide (PDF) and asks Candace if she has noticed this pattern in any relatives. Candace recalls that her mom and uncles had similar issues despite being health-conscious. The nurse recognizes this as important and shares it with Dr. Berman before the appointment.

As they talk more, Dr. Berman learns that Candace’s mother went on to develop heart disease in her late 50s. Dr. Berman explains that what Candace and her family are experiencing could have an underlying genetic cause. Candace is relieved to learn that it may be beyond her control, not a sign she isn't trying hard enough. Knowing that Candace has 2 young adult children, Dr. Berman offers to place a referral to genetic counseling, to help understand both her risk and her children’s.

Actions You Can Take

When you discuss high cholesterol with patients, consider asking if any men in the family had heart disease before age 55, or any women before age 65. This single question can reveal genetic patterns worth exploring further.  

Additional Information and Resources

Genetic Information Shared at an Unexpected Moment

Situation

Maya, the front desk administrative assistant, is calling patients to confirm appointments. When she reaches Amari, he shares that his cousin told him at a family gathering that his heart muscle is too thick, and the doctor said it was genetic. Amari had a heart attack last year and hopes to discuss at his upcoming visit whether they might be related.  

What the Primary Care Team Did

Maya wasn’t sure what “thick heart muscle” meant, but she remembered something about heart problems being genetic from a recent all-staff meeting. She tells Amari that she will note in the appointment record that his first cousin was recently diagnosed with “genetic thick heart muscle condition” and that he wants to explore a possible connection. 

The next day, Dr. Lee reviews Maya's note and immediately thinks of the Hypertrophic Cardiomyopathy Genetic Referral Guide (PDF). The guide shows that having a close relative with HCM is a reason to refer, especially since Amari has already had a heart attack. During the visit, Dr. Lee reviews a text thread between Amari and his cousin and sees a genetic test result that reads “non-syndromic hypertrophic cardiomyopathy” and “pathogenic.” She explains that, given his history and this report, it would be important to meet with a genetic counselor to coordinate family testing—also called cascade screening. 

Amari shares that he is concerned about the 5-hour trip to see a genetic counselor. Dr. Lee reassures him that many genetic providers offer telehealth and can refer him to one that does.  

Actions You Can Take

Don’t let distance keep patients from accessing genetic services. The Genetic Support Foundation offers telehealth genetic services throughout the state. And you can find genetic providers in more rural areas of Washington in our genetic clinic directory. 

Additional Information and Resources 

Subtle Symptoms Prompt Further Evaluation 

Situation

Susheela has been feeling unusually tired for months and wakes up most days with aches and stiff joints. She explained it away as early menopause symptoms until she noticed her skin bronzing. That seemed strange after an especially gloomy Pacific Northwest winter. She shares these details at her annual check-up.

What Primary Care Team Did

Patricia, NP, asks about family health history. Susheela shares that her dad had similar pain, diabetes, and died after a heart attack. She said that her mom had high iron levels, but only late in life. 

Patricia pulls up the genetic referral guides. She notices some overlap with the Hereditary Hemochromatosis Genetic Referral Guide (PDF). But because many of these signs are common—heart disease, diabetes, arthritis—she decides to run some labs first.

The results came back abnormal: 88% iron saturation (normal is below 45%), and ferritin of 2556 micrograms per liter (normal is below 150). Patricia explains that the labs, together with Susheela’s symptoms and family history, point to a condition in which the body can't clear excess iron. She adds that a genetic counselor would be the best person to help Susheela understand her risk. 

As she learns about the condition, Susheela reads about how genetic counseling can affect insurance. She shares her concerns, and Patricia offers her resources on the Genetic Information Nondiscrimination Act. Patricia confirms they can revisit genetic counseling at any time. 

Actions You Can Take

At your next visit for chronic fatigue or joint pain indication, consider asking: “Has anyone in your family ever been told they had high iron levels?”