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Genetic Testing
& Screening for Adoptees

​Genetic testing (GT) is a key health issue for adoptees with limited family medical history, who are increasingly turning to tests as a tool to conduct birth searches and answer life-long questions around family medical history. With the rapid emergence of relatively affordable genetic testing (especially direct-to-consumer kits) and the scarcity of professional recommendations guiding the use of genetic testing in the general population, much less adoptees, this page aims to provide context and introduce considerations around genetic testing and preventative screening for adoptees with limited family medical history and the clinicians who care for them.

 

However, there is much still unknown about genetic testing and its optimal use for adoptees with limited family medical history and no professional medical recommendations exist for this population.

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Page overview:​

  1. Understanding Medical Testing

  2. Genetic Testing & Adoptees

  3. Approach to Genetic Testing

  4. Considerations for Adoptees & Genetic Testing

  5. Genetic Testing Resources

Understanding Medical Testing

What are screening guidelines?

Screening guidelines are evidence-based, population-wide recommendations for testing that could help prevent or catch disease at an early (and more treatable) stage. These guidelines are issued and updated periodically by public health and medical specialists after careful review of both population-wide disease data as well as the quality and cost of available tests. One example of an entity that releases guidelines is the United States Preventive Services Task Force (USPSTF).

 

For a guideline to be issued, the disease must be:​

1) harmful

2) have a period without symptoms (a test is needed)

3) receiving intervention or treatment early (during the time without symptoms) would change the outcome

4) have a test that is available, safe, tolerable, and cost-effective enough to recommend testing the entire population (the majority of whom are not sick).

 

Many diseases do not have all of these features.


Some examples of screening tests include blood pressure checks (hypertension), cholesterol levels in blood work (heart disease), colonoscopies (colorectal cancer), and mammograms (breast cancer).


Primary care clinicians recommend these screening tests to their patients, potentially catching a disease in an earlier stage when it is often more treatable.

 

Note: screening tests must be followed up with confirmatory tests to make the diagnosis. Although all tests would ideally be 100% accurate, it is the combination of several tests with different characteristics (sensitivity and specificity) that is the most accurate way to prove a diagnosis.

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These screening guidelines can be refined if there specific factors (e.g., smoking cigarettes) that are known to increase the risk of certain diseases (e.g., lung cancer) beyond the expected rate. Medical and public health research can unearth these factors.

 

One example might be a person with a biological family medical history of breast cancer that has been diagnosed at relatively early ages (e.g., a biological mom and sister both diagnosed with breast cancer in their 30s). This is a family medical history that is concerning and may call for testing for specific gene mutations (e.g., BRCA), which are risk factors for certain cancers. 

 

For people with increased risk factors, like a person who has inherited BRCA 1 mutation, clinical guidelines may recommend enhanced screening, which may involve undergoing screening tests either more frequently or different tests due to the increased risk of the disease. For example, a person with a confirmed BRCA 1 mutation is recommended to start breast cancer screening earlier—at 25 years old (rather than 40) and with breast MRI (rather than mammogram).

 

Lastly, there is still much that isn't well understood. In the absence of convincing and strong evidence, there is a range of reasonable options rather than one clear answer. A clinician and patient may decide among these options based on the patient's goals, lifestyle, and other risk factors.​

Individualized Medicine

Medical research is always searching for ways to directly improve the treatment options and outcomes for patients. “Individualized" and “personalized medicine" aims to use a patient's genetic profile to attempt to predict the most effective treatment for each patient. For example, people may metabolize certain medications very differently. However, individualized medicine may try to analyze a patient's genes to estimate how a patient might metabolize certain medications. With advancements in genetic testing (GT) over the past twenty years, knowledge that was once unattainable may now be close at hand with the potential to guide treatment and tailor preventative screening.​

Genetic Testing

In 2018, the Food and Drug Administration (FDA) approved the use of direct-to-consumer genetic testing—where a genetic test is sold directly to the consumer without medical professional to interpret the results.

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While screening guidelines have become more sophisticated, they unfortunately do not comment on whether they can adapted to adoptees with limited family medical history. 

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The growing affordability and popularity of genetic testing, especially recreational direct-to-consumer genetic testing kits (which is under-regulated), in recent years has only amplified the need for the medical community to address questions regarding genetic testing in the context of patients with LFMH. 

Genetic Testing & Adoptees

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Why are DNA kits appealing to adoptees?
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DNA kits are advertised as answers to questions that are life-long unknowns for adoptees with limited family medical history.

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For adoptees, commercially available DNA kits may play into their desire to:

  • search for biological family​

  • “know" their ethnic background

  • learn about health in the absence of family medical history

    • alleviate medical anxiety for both themselves and biological children

 

In many cases, adoptees face structural barriers and numerous obstacles to obtaining this information otherwise (view the Limited Family Medical History page to learn more).

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The direct-to-consumer genetic testing industry also appears to be highly aware of adoptees as a target consumer, publishing specific content and offering free DNA kit initiatives to adoptees. 

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A survey of 1200+ adoptees conducted by the National Council for Adoption in 2023 found that 2/3 of adoptees had undergone elective genetic testing.

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​In summary, adoptees are incredibly aware of genetic testing, want their clinicians to discuss genetic testing with them, and are pursuing genetic testing independently through commercially available DNA kits.​

SahanJournalNews
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In a 2023 survey of 1200+ adoptees, 2/3 had undergone genetic testing.

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In addition to pursuing genetic testing, adoptees are actively organizing around their access to genetic testing. 

Many adoptees view commercially-available DNA kits as beneficial towards mitigating the potential risks of having limited family medical history. Many adoptee organizations will host seminars or lectures on the topic of selecting DNA kits for health reasons or as part of a biological family search. It is not uncommon to see adoptees fundraise online to cover the costs of their DNA kits.

 

Several adoptee community organizations (325 Kamra, Nanchang Project, Adoptees United) devote significant energy or are founded with the sole mission of providing adoptees with access to genetic testing and/or conduct biological family searches. These organizations include but are not limited to:

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Some adoptees also believe that health insurance companies should cover the costs of purchasing these kits for adoptees with limited family medical history.​ They may ask clinicians to assist them in their requests for insurance coverage.​

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In summary, many adoptees view DNA tests as a beneficial tool to answer lifelong questions about their biological family and ethnicity, mitigate limited family medical history. They may also view barriers to accessing DNA kits as indicative of a disparity in adoptee health.

Adoptees wish their clinicians would discuss genetic testing with them.

Approach to Genetic Testing

In the absence of true clinical guidelines for how to approach an adopted patient with LFMH and their screening, we offer these recommendations for approaching discussions around genetic testing.

  • Offer to discuss how LFMH and genetic testing may/may not inform their preventative care.

    • ​Acknowledging this as a serious concern may validate your patient and to build a positive relationship.

  • Be transparent around unknowns and the absence of clinical guidelines.

  • Manage expectations around genetic testing and its limitations.

  • Engage your patient in shared decision-making.

  • Arrange patient follow up and/or refer to genetic counselling.

Considerations for Counselling

So what are some things for adoptees with limited family medical history to consider before or interpreting a direct-to-consumer genetic test?

Genetic Testing Considerations for Adoptees with LFMH

  • Cost

    • There's no insurance coverage for extra screening for patients with limited family medical history​

  • ​For those with LFMH, DTC genetic testing has limited interpretability

    • Many mutations (testing is usually directed by known family medical history)

    • Many variants of unknown significance (VUS)

  • Direct-to-consumer tests are held to different standards

    • Unlike clinical tests ordered by a clinician, these are not processed in Clinical Laboratory Improvement Amendments (CLIA) or College of American Pathologists (CAP)-accredited labs.

      • False negative                              false reassurance

      • False positive                             psychological harm

        •  A 2018 study found up to 40% of positive results were a false positive​

        • A  2023 retrospective cohort study of 350,000 patients found that direct-to-consumer DNA kits testing ( including 3 founder mutations) in BRCA 1/2 genes had a false positive rate of 69% and missed 90% of actionable cancer genes for those who did not have Ashkenazi Jewish descent (10% for those with Ashkenazi Jewish descent).

        • Any positive result should be further evaluated with confirmatory genetic testing

  • May affect disability, life, & long-term insurance affordability

    • Although the Genetic Information Nondiscrimination Act (GINA) offers certain protections regarding employment, it does not apply to disability, life, and long-term care insurance, employers with <15 employees, or people who get their health insurance through the federal government or military.

  • Loss of privacy

    • Companies may sell genetic information to third-parties or allow law enforcement access

  • If used as part of a biological search, adoptees should know that reunions are rarely straightforward or unemotional events.

Genetic Testing Resources

Below, we've included some resources for clinicians and patients around genetic testing.

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