PreventionGenetics Review: Can DNA Tests Help Doctors Diagnose?

Overview

1. Products: Whole Genome Sequencing (WGS), Whole Exome Sequencing (WES), disease reports, DNA Banking.
2. Cost: The DNA banking service is priced at $169, but the WGS can cost $4,990.
3. Reports: Disease reports.
4. Raw data access: Yes.
5. Privacy: PreventionGenetics may share protected health information as described in their Privacy Policy.
6. Alternatives: SelfDecode – get personalized health recommendations based on DNA.

Pros

• The company offers tests for many genetic conditions.
• They offer both Whole Genome and Whole Exome Sequencing.
• The reports present detailed information about the conditions analyzed.

Cons

• PreventionGenetics does not provide health recommendations to the patients.
• They do not allow a raw genetic file upload.
• The tests are expensive.
• Patients must go through a medical professional to have access to the tests.

About PreventionGenetics

PreventionGenetics was founded in 2004 by current CEO Dr. James Weber, who was a major contributor to the Human Genome Project. They are located in Wisconsin, USA, and strive to provide clinical genetic testing to help people improve their lives.

The company states that many of their geneticists participate in ClinGen expert gene curation groups, which is dedicated to developing a central source to describe the clinical relevance of genes and variants for precision medicine and research.

They have partnered with pharmaceutical companies and non-profit organizations to offer no-cost tests to patients who qualify for the programs or studies.

Review of PreventionGenetics Products & Features

PreventionGenetics offers clinical DNA testing through medical professionals to aid with the diagnosis of genetic conditions. To get started, patients must consult with their healthcare provider, who will then fill out a form with the patient’s information, the test selected, and any additional clinical information. The company requires a copy of the clinical records to be attached to this form.

The PGnome Diagnostic test offers Whole Genome Sequencing (WGS) to analyze the entire genome. This test is designed for diagnosis, the assessment of disease risks, pharmacogenetics, and more. The results are ready in 28 days.

PreventionGenetics provides four options for this test, depending on the number of family members tested, as listed below:

• Family Trio: WGS of the patient and two family members.
• Family Duo: WGS of the patient and one family member.
• Family Plus: WGS of the patient and a targeted variant testing of the parents.
• Patient Only: WGS of the patient only.

The PGxome Diagnostic Exome Test assesses almost all genes from the human genome, including coding regions. This test is recommended for healthcare professionals who are looking for a diagnosis and did not have success with previous diagnostic methods. The results are delivered in 30 calendar days.

Similar to the PGnome Diagnostic, the company also offers four options for this test, depending on the number of family members tested. PreventionGenetics offers an express option for this test in which the results are delivered in 14 days.

The PGxome Health Screen Exome Test is intended for patients who wish to find out their carrier status for recessive diseases and learn their susceptibility to adult-onset disorders.

The company offers a Prenatal Exome Test for ongoing pregnancies that present ultrasound findings consistent with serious genetic conditions. Additionally, they offer Custom Panels for WES that are customizable to fit the patient’s specific needs.

The Targeted Variants tests offer single, double, or triple variant sequencing for any gene on the PreventionGenetics test menu.

Furthermore, the company offers the DNA Banking service that provides patients with a secure place to store their DNA for future use. DNA Banking is a direct-to-consumer service. After extraction, DNA is stored in secure freezers at multiple locations.

Review of PreventionGenetics Reports

PreventionGenetics’ reports are divided into up to six sections. The primary findings section covers the results related to the patient’s clinical presentation, as seen in the sample report below. The report provides the genes known to be associated with phenotype and those possibly associated with the phenotype.

Patients can opt-in to receive additional information about 59 medically actionable variants from the American College of Medical Genetics recommended list of genes. Users can also choose to learn about variants in genes that may result in a Mendelian Disorder, which can occur due to alterations in one gene or as a result of abnormalities in the genome.

The company offers information about carrier status and rare variants for which there is little or no evidence to suggest a connection with human disease.

The report presents additional information about the test performed and its limitations. The company also gives a few recommendations about further tests and explains if a genetic counseling session is necessary, as seen below.

The company thoroughly explains their findings and supports their claims with scientific evidence.

Since the reports are meant for healthcare professionals, the language used is very technical and not easily understood by those outside the medical field. As stated before, PreventionGenetics offers a few clinical recommendations to the healthcare provider, but they do not make any suggestions to help patients manage their genetic conditions.

Cost of PreventionGenetics

Prices vary according to the test selected and the number of family members tested. For the PGnome Diagnostic, the prices are listed below.

• Family Trio ($4,990)
• Family Duo ($3,890)
• Family Plus ($2,590)
• Patient Only ($2,490)

The PGxome Diagnostic Exome Test prices are as follows:

• Family Trio ($2,490)
• Family Duo ($2,290)
• Family Plus ($1,890)
• Patient Only ($1,990)
• Rapid Exome Test ($2,290 – $2,890)

The Prenatal Exome Test prices range from $2,860 to $3,590. The Custom Panel prices are determined by the number of genes selected and it can cost $390 to $1,790.

The Targeted Variants test can cost up to $990. The DNA Banking service is priced at $169 per person.

PreventionGenetics is a contracted provider for Medicare and Wisconsin Medicaid, and several other health plans.

Health Recommendations from PreventionGenetics

PreventionGenetics does not provide any health recommendations directly to the patient. The company may offer healthcare professionals additional testing suggestions and recommends genetic counseling when it is needed.

Review of PreventionGenetics Privacy & Data Security

PreventionGenetics states they are required by the Health Insurance Portability and Accountability Act (HIPAA) to keep protected health information (PHI) confidential. They may disclose PHI if it is necessary for the patient’s treatment, and to receive payment for the services provided. For example, the company says they may share PHI with insurance companies or health plans.

They may disclose PHI for public health-related activities and non-profit research purposes. Patients have the right to inspect and copy the PHI maintained by the company.

SelfDecode vs PreventionGenetics

1. SelfDecode delivers natural supplements, diet, and lifestyle suggestions based on your genes that you can implement right away. PreventionGenetics does not provide health recommendations directly to the patient.
2. SelfDecode tells you why they make each recommendation so that you can understand the science behind the suggestion. PreventionGenetics offers a few clinical recommendations to healthcare providers.
3. SelfDecode prioritizes recommendations based on their analysis of all the relevant genes instead of one gene at a time (through reports). PreventionGenetics does not prioritize their recommendations.
4. SelfDecode takes a holistic approach to give recommendations that are best for your genes AND the health topic. PreventionGenetics offers clinical DNA testing for diagnostic purposes.
5. SelfDecode has a team of over 60 highly skilled scientists, MDs, PhDs, NDs, and software engineers to make sure they deliver the most accurate and science-based health information. PreventionGenetics has a team of PhDs and genetic counselours. 
6. SelfDecode is the most comprehensive and looks at more genes & SNPs (up to 83 million) to deliver the best analysis of genetic risks. PreventionGenetics performs WGS and WES, but it is expensive.
7. SelfDecode supports everything with peer-reviewed scientific studies in their research and checks for contradicting information. PreventionGenetics shares scientific references in the reports.
8. SelfDecode never sells your data or gives it away. PreventionGenetics may share protected health information, but not for commercial use.

Comparisons

Alternatives to PreventionGenetics

SelfDecode: Health-focused DNA analysis that delivers personalized diet, lifestyle, and supplement recommendations through detailed health reports.

PreventionGenetics Review Summary

PreventionGenetics provides tools to help healthcare professionals diagnose genetic conditions. Patients cannot order tests from the company on their own, and they need to consult with a medical provider to get access to their services. The company does not offer recommendations to their customers, and the reports use technical language to communicate the findings.

While an accurate diagnosis is crucial to help patients treat diseases, other services like SelfDecode can offer personalized health recommendations that can be easily implemented without having to contact a doctor. SelfDecode also has professional plans for medical providers to help with the individualization of care for their patients.

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